There is little known about the A1298C MTHFR mutation.

Or so it seems.

Research seems to ignore it almost completely while the C677T MTHFR mutation gets all the attention and glory.

For those who have the A1298C MTHFR mutation, this is frustrating.

Symptoms exist and doctors are saying there is no correlation between the MTHFR A1298C mutation and your symptoms – right?

I’d like to prove them wrong – at least for the symptoms which do correlate with the A1298C MTHFR mutation.

Lets’ get started.

The MTHFR A1298C mutation may affect you if you are either:

  • Homozygous A1298C MTHFR mutation
  • Compound heterozygous A1298C + C677T MTHFR mutation (like me)

My current stance on the heterozygous MTHFR A1298C mutation is that it is very common and does not seem to pose too much concern unless there are other methylation or cytochrome mutations present. Obviously, if one leads a lifestyle which is unhealthy (smoking, high stress, toxic exposures) and consumes an unhealthy diet (refined carbs, processed meats, saturated fats), then having a heterozygous A1298C mutation may contribute to cardiovascular disease, depression, fibromyalgia and others.

Anyone with or without any MTHFR mutations can still have what I call a ‘Dirty MTHFR’ gene.

Learn how to clean up your Dirty MTHFR gene by reading Dirty Genes


Ever hear this?:

Your homocysteine levels are fine. You’ve nothing to worry about.

I know many doctors evaluate homocysteine only when it comes to MTHFR mutations.

This is absolutely incorrect.

Regardless of which snp you have, either the 677 or 1298, the MTHFR enzyme’s end product, methylfolate, supports two major pathways: BH4 and Methylation.

BH4 regeneration is supported by methylfolate and SAM.

Some people say that BH4 regeneration is only done by those having the MTHFR A1298C snp – and not those with the MTHFR C677T snps.

This is incorrect.

There is not one study that shows biopterin recycling is limited to those with A1298C compared to those with C677T.

In fact, lower tetrahydrabiopterin levels are likely found more frequently in those with the 677 variant compared to the 1298. Why? Because the MTHFR 677 variant is more severe than the 1298.

The BH4 cycle is absolutely critical for these various functions:

  1. assists the breakdown of phenylalanine
  2. helps form these neurotransmitters:
    • Serotonin
    • Melatonin
    • Dopamine
    • Norepinephrine (noradrenaline)
    • Epinephrine (adrenaline)
  3. cofactor to produce Nitric Oxide (NO)

Does one see only elevated homocysteine in those with the C677T MTHFR mutation and only mood disorders in those with A1298C MTHFR?


If your BH4 cycle is not working properly due to a MTHFR mutation, you are definitely going to be expressing some symptoms either mentally, emotionally or physically – or – all together.

Once you understand the biochemical effects the MTHFR mutation causes, it becomes easy to identify possible problems.

I am going to list possible symptoms, signs and conditions associated with MTHFR mutations. Keep in mind this is not a comprehensive list. I will add to it as I think of more (or you inform me of ones that I have omitted).

There is a MTHFR Quiz in the book, Dirty Genes, which will show you if your MTHFR gene is acting dirty or not. Then it will provide you methods to clean it up.

Possible symptoms associated with A1298C MTHFR mutations:

  • hypertension
  • delayed speech
  • muscle pain
  • insomnia
  • irritable bowel syndrome
  • fibromyalgia
  • chronic fatigue syndrome
  • hand tremor
  • memory loss
  • headaches
  • brain fog

Possible signs associated with A1298C MTHFR Mutations:

  • elevated ammonia levels
  • decreased dopamine
  • decrease serotonin
  • decreased epinephrine and norepinephrine
  • decreased nitric oxide
  • elevated blood pressure
  • muscle tenderness
  • ulcers
  • pre-eclampsia

Possible conditions associated with A1298C MTHFR mutations:

  • fibromyalgia
  • chronic fatigue syndrome
  • autism
  • depression
  • insomnia
  • irritable bowel syndrome
  • inflammatory bowel syndrome
  • erectile dysfunction
  • migraine
  • Raynaud’s
  • cancer
  • Alzheimer’s
  • Parkinson’s
  • recurrent miscarriages

There are certain dietary, lifestyle and supplemental recommendations that help reduce the effects of the A1298C MTHFR mutation.

That is well beyond the scope of this article. Again, I address this heavily in the book, Dirty Genes. I don’t mean to belabor that point but it is after all a book while this is an article.

There are a few nuances making it difficult to simply give flat recommendations for all who live with the A1298C MTHFR mutation.

Remember, if you are homozygous A1298C or compound heterozygous MTHFR, the likelihood of your family members also having MTHFR mutations is very high.

Get them tested!

Again, a single copy of A1298C MTHFR does not appear to be harmful unless it is combined with the C677T MTHFR snp – known as compound heterozygous.

For now, I hope this is useful for you and has shed some light into your situation.

Long Term Solution for your MTHFR A1298C Mutation

Now that you realize that despite doctors saying your MTHFR A1298C mutation is not significant, it actually may be. It’s not just about one gene in your body causing issues. It’s about how your genes communicate with each other.

Who is in control of how your genes are working from moment to moment?

You are.

I’d really like to see you get on a full program vs just running about and scouring the internet for useful tidbits of information.

I know that can be useful at times – and it led you to here. Now I highly encourage you to stop browsing.

You found what you needed.

I’ve been studying, researching, treating and educating health professionals, medical associations and the public about MTHFR since 2011.

Reading my book, Dirty Genes, will help you immensely.

You’ll learn about MTHFR and how to use methylfolate in depth, yes, but you’ll learn WAY more than that.

Empower yourself and take action the right way.

Dirty Genes is the guide you’ve been looking for.

It continues to be a bestseller month after month for good reason.

Dirty Genes book by Dr. Ben Lynch

You’ll see why once you pick it up and start reading 😉

Don’t like reading books? Want to get more in depth and see how it all ties together?
Get access to the Dirty Genes Course where I discuss how food, lifestyle, environment, mindset and genetics are influencing how you’re feeling – and how to deal with it all.

The Dirty Genes Course is where I bring in a lot of published research, translate it and make it actionable for you. It’s an extension of the book, Dirty Genes. There is a lot of science, biochemistry and actual examples of how to use this stuff in your daily life.

Is it going to be over your head in terms of difficulty?

Absolutely not.

You’ll learn a ton and you’ll be amazed how easy it is to implement what you learn.


  • Sara P says:

    Dr Lynch,
    Thanks for all your work!
    Do you have patients with anxiety as the only symptom of Homozygous A1298C MTHFR mutation?
    I recently received results that I have this mutation with normal homocysteine level (7 umol/L) but Vit B12 (707pg/mL) and RBC Folate (956 ng/mL).
    I’ve battled anxiety which lead to this testing. This is the only symptom or sign I have. I ordered the L-5-MTHF 1000 (Provides 1,000 mcg of pure non-racemic l-methylfolate) capsules from Seeking Health in hopes this will help me feel less anxious. Thanks!

    • Sara P says:

      UPDATE: after taking 1 tablet of the above mentioned capsules every 24 hours, I felt much better after three days. I’ve been taking 1 tablet every morning since January 2014 and experience less anxiety. I am so thankful for these tablets and this website which provided invaluable information, thanks!

    • Margaret Kelly says:

      Thank you Sara for the update! My daughter, 33, has been battling disabling anxiety and panic attacks for her entire life. No medications have worked. She was just tested and found to be homozygous A1298C. There is so little info on that! She will be starting the same regimen you have been doing and hope it works.

  • Pete says:

    Hi Dr. Ben,

    My 20 year old daughter has been suffering with headaches, memory loss, and concentration issues. She has had numerous MRI’s and CT Scans all of which were normal. She recently underwent neuro psychology testing and was diagnosed with ADD. Despite the ADD, she is doing well in college but feels she has to work so much harder then everyone else to get decent grades. In addition, she has Antiphospolid Syndrome. We did the 23andMe testing and it came back with many variants in the methylation cycle. She is homozygous for A1298C, AGT, DAO, BHMT-08, MTHFD1, all the MTHFR’s except C677T, NOS3, TYMS, and VDRBsm. She is heterozygous for Prothrombin 20210A, ACE, ACAT, ACHY, CBS, COMT, DHFR, GAD1, MTHFD1L, MTRR, PEMT, SHMT2, SLC19A1, and TCN1.

    Many of these are in the methylation cycle. I don’t know how common it is to have so many defects but I’m at a loss as to where to begin with so many defects. My questions are do you believe her signs and symptoms can be related to all of these defects and what do you recommend as next steps ? I’m reluctant to just do trial and error on supplements with so much going on in the methylation cycle.

    thanks in advance,

  • Paola says:

    Hi Dr. Ben!
    A person that is homocygous, multiple miscarriages and has bradycardia can be related?
    Which is the diet that has to follow?
    Thanks for your help

  • Jj Zazueta says:

    Hi. I’m trying to get tested for mthfr but dr wants more info. Just learned I hav late stage Lyme and am high metabolizer of pain meds and also was told positive for clotting factor v r506q mutation/ factor v-Leiden . What info can I giv my dr so I can b tested please? I suffered for bout 20 yrs severe bloody nose w clot that could unroll and cover whole palm of hand. All my 3 boys hav chronic bloody noses?? Thank u for ur time.

  • Kim says:

    Dr. Ben, PLEASE HELP!

    I have had 5 miscarriages. I recently found out I am Homozygous and I am trying to find it what I might be able to do to carry a child to term. I cannot find a Dr anywhere who is educated or trained on how to treat me.

    • Teresa says:

      Kim, where are you located?

      • kim says:

        Asheville, North Carolina

        • Teresa says:

          Kim, Here is a doctor listed under Dr. Lynch’s list of psycisians attending one of his conferences:

          North Carolina

          Marie Andersson, DC
          Sage Wellness Group
          Hendersonville, NC

          • Kim says:

            Thank you. I am aware of her. Unfortunately she is a Chiropractor and cannot prescribe meds. I have to see a fertility specialist to get pregnant since I can only get pregnant through invitro. I am uncertain if I need to take a blood thinner to maintain the pregnancy. It seems at about 8 weeks gestation I loose the baby. No one can figure out why and I cannot find a fertility specialist who is educated about MTHFR.

    • Jeremy says:

      Kim, look into being diagnosed with Hashimoto’s (my wife has it and has had multiple miscarriages). I would strongly advise looking into taking LDN, Low Dose Naltrexone… Dr Phil Boyle from Ireland pioneered this and you can fine a decent amount of info from a Google search.

      I am sorry to hear about the miscarriages.

    • Kimberly says:

      HI Kim – I am also Homozygous and Had the same issue. Had 7 miscarriages before I was put on blood thinners /or aspirin ( check with your doctor what is best for you ) and that was all it took 🙂 !! Carried my daughter to term with no issues. The MTHFR gene is known to cause miscarriages.

    • Julie says:


      I’m not a doctor but I too have the same MTHFR homozygous mutation of A1298C. I went to a fertility specialist after having 7miscarriages at roughy 7-8 weeks gestation. I finally was put on a daily shot of Lovenox and I carried my baby boy full term! I’m pregnant again and starting the shots. I take methyl B12 complex daily as well. Please don’t give up hope!

  • Joanna says:

    Back in 2008 I was diagnosed with two mutations C677T/A1298C . My cardiologist but me on warfarin but after months of trying unsuccessfully to get my levels balanced and worry about a possible blood clot in my lungs I was sent to an oncologist who also specializes in blood disorders and diseases. He took me off the warfarin and told me that it was protocol to wait until I had my first blood clot before placing me on blood thinners due to the risk of the blood thinners them self. My concern is that the first clot could be the last. Your article caught my attention as I have been diagnosed with Colitis, Fibromyalgia, Chronic fatigue syndrome, Parathyroid issues, My vitamin D levels are at 6 unless i take 50,000 iu a week, I take potassium and calcium to help with the parathyroid issue. I deal with constant muscle pain and memory issues which affect my ability to do my job well. I just want to get to the bottom of this and find a doctor who will help me get this condition under control so i can get back to enjoying my life to the fullest.

    • Joanna says:

      I forgot to mention i live near Canton Ohio if anyone has a doctor recommendation.

      • Larry Lozier says:

        Joanna, did you ever find a good dr in the
        area? I just moved to Youngstown from NYC
        and am looking for a good dr.

    • Teresa says:

      Joanna you haven’t by any chance taken any fluoroquinolone antibiotics at the time your muscle pain started? Like Cipro, Levaquin, or other related drugs, because this family of anitbiotics can cause a multitude of problems in some people. The most frequent problem is tendonitis or rupture of tendons.

      • Joanna says:

        Due to having recurrent kidney stones and kidney infections I have taken Cipro off and on for years. The first time I had the muscle pain and spasms was back in 2000 when I had meningitis. I have had this problem since then, The best way i can describe what happens is it is like having an epileptic seizure(my dad had these) only unlike and epileptic seizure I can carry on a conversation and am fully alert the whole time. My Cardiologist thought I had MS so he did tests and found that I had the two mutations I listed above.

        • Teresa says:

          Please be careful with this group of antibiotics as some people have become permanently disabled using them just once. Debilitating pain, heart paps, tendon ruptures, confusion, nerve damage etc. etc. etc. I wouldn’t take another one of these groups unless I was going to die. They are too risky. One round can be okay for some people but then taking them them again later can cause bad things to happen to ones body. Scary, scary antibiotics.

        • Tri says:

          Joanna did you ever find a doctor in your area?

          • Larry Lozier says:

            Tri, I’ve just moved to Youngstown Ohio from
            NYC- Do you know a good dr in the area? I’d appreciate
            any suggestions you may have –
            thanks, Larry

    • Lauralee says:

      I see a homeopathic doc who put me on fish oil as an alternative to blood thinners. His reasoning was the same, no blood thinners unless I get a clot. I take a double dose of fish oil and iodine and folate, but perhaps seeing this type of doc might be helpful. I also see a hematologist who helps with my blood issues. I usually get IV iron every two months and give myself b12 injections monthly.

  • Larisa says:

    Dr Ben,
    I just recently found out I am homozygous 1298. I have been experiencing muscle pain, brain fog, depression, malabsorption, fatigue, etc for 6 months and am so glad my NP thought to test me for MTHFR as it was a mystery to everyone else I saw. I am going to see a specialist to treat the MTHFR, I am waiting for my first appointment in a few weeks.

    I am wondering what are additional mutations or labs I should get tested for that would be helpful for my doctor? I am nervous about starting treatment as I’ve read it can get tricky getting started.

    Thank you so much for your time and the work you have put into this website, it has been incredibly helpful in a time of so much distress and confusion. Im sure the rest of the community agrees as well.
    P.S: I met and spoke with Becky Andrews, she is wonderful but does not take insurance. If things do not go well with the other doc I might have to go see her 🙂

  • Eliza Matas says:

    I recently had a blood test that indicated I have the A1298C mutation.
    My blood tests also indicated I had elvated Homocystiene levels but no C677T glitch.

    I’m wondering if this is the cause of my anemia, pcos and depression.

  • Carrie says:

    Hi Dr. Ben,
    I recently met with an herbalist because of having symptoms of really low energy, high stress, depressed, foggy brain, highly irritated, low libido, rough pms, skin rashes (seems to be wheat flour), but that isn’t even definitive as I itch at odd times almost everyday… She first said “adrenal fatigue” and as we talked more about my family history, she recommended me get tested for the mthfr mutation. I have homozygous MTHFR A1298C and heterozygous for MTHFR 03 P39P. I also had homozygous for VDR Bsm, MTRR H595Y, MTRR K350A and CBS C699T. And was heterozygous for COMT H62H and COMT V158M…
    Currently I have been prescribed to get off my supplements that have the folic acid and b12 that are inactive forms. And now I am changing to femone plus and methyl folate and methyl b12.
    We are doing a 90 day cleanse right now as well that is complete with parasite herbs, fiber, probiotics and a tea. It is doing it’s job as we can tell. And our diet is great most of the time. We did have a not so good meal this afternoon while out and about and I’m bloated and a bit uncomfortable.
    Do I need to avoid tuarine?
    What else should I be doing to address all these mutations. I’m 29 years old, never had a miscarriage and have 2 little girls (my mom had 12 miscarriages and my sister has had 3 or 4 so far… among a ton of other health problems…)
    Thank you for your time as you reply. I see you have helped so many. What a blessing.

  • Nancy says:

    Hi Dr. Ben,
    I recently took the 23and me test to get better answers about my children’s health and found out I have Compound Heterozygous. I am wondering specifically if you have come across other patients who have vitiligo and/or PANDAS and MTHFR or if this might be separate issues or PANDAS symptoms not really PANDAS but caused by MTHFR? Incidentally, my kids are not vaccinated. Any help appreciated.

    Thank you for your very informative website.

    • Susan says:

      Hello Nancy, I wanted to mention, both my children have PANDAS and also have MTHFR mutations. One daughter is compound heterozygous and the other is homozygous 1298c. We also have lyme disease. We started the MTHFR protocols about 6 months ago and are still working towards seeing the benefits. My homozygous daughter I think may be doing very much better regarding the PANDAS and Lyme symptoms.

  • Heidi says:

    I have read a few articles about your reseach. I was looking for a specialist in the Midwest – Nebraska surrounding area. I have been having severe mood swings anxiety/depression along with worsening hypothyroid problems and severe acid indigestion/gastric pain.. I have in the removed gluten and dairy from my diet in the last week and has seemed to help with the indigestion/pain but still really concerned about my lack of energy and depression. I also have slowly started L-methylfolate and active vitamin B-6 and B-12 to my supplements. I was wondering how long i can expect to feel this depressed or anxiety over nothing. I am still waiting to see a hematologist to see about a medication called metanX and draw some levels even though my type of mutation doesn’t seem to have elevated homocystine. I am wondering what my folate level is and maybe check for a build up of heavy metals.

    I just want to feel like myself again. I think my husband is getting scared I’m going to be this woman I have turned into forever…i hope not. Any insite would be wonderful plus we are trying to conceive now and have been trying since July with no success.

    Heidi Taylor RN, BSN
    30 year old homozygous a1298c
    Omaha, Nebraska

    • Heidi- I live in NE. My Dr is well aware of MTHFR and diagnosed my family. She knows a lot about supplements as well as the issues surrounding these mutations, etc. Her name is Lynn Kocian and she is in Gretna. Find me. I’d be happy to talk.

      Cherie Barbian
      Gretna, Nebraska

    • ewa says:

      I know its 4 years later but I am curious how things go with you. I hope that everything worked out with you and you have a healthy baby.
      I live also in Omaha 🙂

    • Nancy says:

      I know this is an old post but I was curious as to what info you received regarding Metanx. I’ve been on it for 15 years. I have the MTHFR A1298C x 2.

      • Yeny says:

        Hello, I just realize I have the same situation , I have the A1298c and the doctor say I have to take metanx. How is this medication? My insurance doesn’t cover it and there is a pharmacy who sell 90 pills for 89$. Is it help? Thank you

  • Rachael says:

    I was just diagnosed with homozygous 1298 and started on deplin 7.5mg which seemed to have no effect. My dr then increased the dose to 15mg. I feel nauseated, anxious and achey. I am a PA and have never heard of this medicine or mutation, therefore I began to research and found this site…I am now pretty freaked out to be quite honest. The only reason I was even tested was because I have started having some increased anxiety around my cycles. I have struggled with depression in the past after my mom passed away suddenly 4 years ago…i do have migraines which just started this year as well. To be honest, much of this information makes perfect sense when you study the methylation process but I am afraid that my dr is not as educated on the supplements, methylation process, detoxing, etc…I will be looking for someone with more experience with this but in the meantime, is this too much deplin without being worked up further? The only labs she did was a CBC, CMP, TSH, Lipids and MTHFR, all of Which were normal except for the MTHFR. Any help would be greatly appreciated! Thank you

    • Elizabeth says:

      Reading info at this site will help–seems that your doc was not being very careful. Could be you can only handle about 10 percent that much methylfolate, which is the case for many of us here–depends on other mutations and things. Scary that the doc would double such a high amount w/o looking more carefully. Hope you find good info here in the posts by Dr. Lynch and from others’ comments.

  • Connie says:

    Is it possible to determine if I have A1298C MTHFR or C677T MTHFR by looking at results from a DNA test taken for genealogical purposes?

    • Elizabeth says:

      If it’s from 23andme, you can go to wheel at top of your 23andme page and download raw data; then upload raw data at (com?) to find out, and you’ll get info on a number of SNPs besides those two.

  • Brian Harkness says:

    Dr Lynch,

    are research references available giving details of the 1289C mutation, and it’s impact on BH4?

  • Rocket says:

    Can you advise re. A person with a diagnosis of ADHD and low histamine (over methylator), recommended supplements folic acid and b12 and niacin, also prescribed ritalin independently. Should the supplements be the methyl forms or should they be avoided because of the low histamine, also what about the Ritalin, would this not exacerbate the overmethylation, very confused!

  • Susan says:

    I am homozygous for A1298. I am recently pregnant (8weeks). My first pregnancy I took folgard and baby aspirin and have a healthy 2 year old. My OB recommended I take Neevo DHA this time around (methylfolate etc) and since I have begun taking it I have started bleeding. There seems to be no effect on the fetus, but given the proximity of when I started taking the new vitamins and the symptoms I can help but think there may be a correlation. Should I keep taking the methylfolate. Is there any chance that the methylfolate are causing my new symptoms? There seems to be little information about the A129 and how to treat it, and I was hoping I may find an answer her.

  • Honor Murphy says:

    Hello, I just found out my 21 year old has MTHFR 1298c homozygous. She had thyroid cancer less than a year ago. Both sides were involved and she also had it in 15 lymph nodes on the rt side around the thyroid. We recently started working with a functional medicine MD in Kissimmee Florida and he had this test ordered for her. As I am looking over your site I see some real things coming out that she also has struggled with besides cancer. Mostly in the cognitive and emotional areas, ADHD and problems with her emotions and nerves, irregular periods and recent skin problems acne. she is a remarkable girl despite these difficulties competing on a DI college soccer team and finishing college this May on time. I know she would like to improve and of course prevent any further illness due to this problems.

    I have three questions, 1— we have 6 other children. I am assuming they all should be tested. Is there any other things that should be looked at while we test for this?.

    2—- What do you recommend our next step is for our daughter- since we found all this information out she is on Xymogen OTC optimag, zymogenActive Nutrients which has only 200mcg of folate ( is that enough?), PHP Seleno Meth Iodine, sonTheamine by dr, choice, Prothera vitamin C 1,000mg. After reading all this information I am wondering if she should see someone who specializes more with this problem??? We live in Florida and its not too big a state for us to travel but she lives in Jacksonville and we live in Melbourne.

    3- Is it possible my husband also has the same condition and is not just heterozygous or I guess just a carrier so to speak???? He had prostate CA at 46 . I realize that we both have to at least be carriers . He has improved in so many ways since seeing our new MD however of course we want to do anything we can to prevent further chances of a return of cancer.

    • Kimberly says:

      Who is the doctor you are seeing in Florida for MTHFR ? Do you like them? Do you feel they have helped ? Trying to find someone knowledgeable in Florida as well

  • Bridget Q says:

    I have 2 copies of A1298C and am 35 years old. I had a TIA during my last pregnancy which lead to testing that showed an aneurysm that I have had clipped. This is when I was diagnosed around the end of ’06 beginning of ’07 because my half sister has two copies they decided that I had to be tested. I have had IBS symptoms since I was very young. I have suffered from migraines since I was a teenager. Anxiety has been a big problem and depression off and on. I have confirmed osteoarthritis in both shoulders and my spine. My doc suspects fibromyalgia if I can ever get into a rheumatologist. I do suffer from chronic pain and fatigue, I am always tired but had trouble getting to sleep until my doc added ellivil with the clonapin I was taking. I am currently scheduled for a GI doc to scope me top and bottom for family history of ulcerative colitis and my own history of hemorrhoids that bleed occasionally, and have a referral to see a hematologist for blood work at my neurologists request. Do you think this could all possibly be linked to my mutation? What blood tests should I ask for if the hematologist is not familiar with the disorder? The neurologist wants to try giving me high doses of B vitamins to help with my migraines but wants to make sure it would be OK to do that first. I feel like I have been lost in the system having to have surgery on both shoulders last year when I originally complained of problems that could have been fixed with physical therapy 4 years prior. I need to know what to say to these people to get to a point where I don’t feel disabled with crippling pain a norm for me and my anxiety getting to the point of paralyzing me because I just don’t know where to start. Please help me in any way you can with the knowledge I need to take with me to my appointments.

    Bridget Q

    • Brian Harkness says:


      the usual pattern with Fibromylagia (and its sister disease Chronic Fatigue Syndrome) is that there is some disruption to more than one hormone. The pattern varies with both length of disease and disease state.

      The active form of Vitamin D is often below ‘optimal’. Cortisol,

      Thyroid Hormones, Testosterone are often abnormal but may be both low and high. They are very difficult for a doctor to interpret unless he specialises in the disease.

      Jacob Titelbaum’s book ‘Fatigue to Fantastic’ covers this in detail.

      The extent to which they are altered is also often more subtle than more doctors would recognise.

      • Bridget says:

        Thank you Brian,

        My vitamin D levels are low. My cortisol and thyroid hormone levels are being tested because my thyroid stimulating hormones are elevated and my thyroid and lymph nodes are swollen. Hashimoto’s disease runs in my family (my type 1 diabetic aunt has it and both her daughters have antibody levels through the roof so it will be the end result for them), so I am being tested for that as well. Thank you for your response to my post! It has been a long hard road to get my doc to do blood work, but now I am finally getting results. Maybe someday I will feel good again. Have a great day!

  • Anne says:

    Hi Dr Ben,
    So glad I found this website!
    I was recently diagnosed with heterozygous A1298C mutation after having my 3rd miscarriage (though I do have a healthy boy who was born between 1st and 2nd miscarriages).
    My doctor prescribed baby aspirin and Folgard to begun taking when we start “trying” again (soon!). She said it didn’t matter if my prenatal vitamins I take have Folic Acid or active methyl folate in them, but I’m weary of this. Do you recommend a certain prenatal vitamin formula or brand? Or other advice to have future healthy pregnancies/babies?
    Thank you!

  • Michelle shanks says:

    I have the Homozygous A1298C, so is my 17 year old son. My husband is about to be tested. My question relates to Low Homocysteine levels.
    I have a very low Homocysteine level. I was listening to your audio and you mentioned the CBS uptake, but said you wouldn’t give details there and then.
    What does it mean for me, having low homocysteine levels, and a possible issue with the CBS uptake?
    Thank you.

  • terri says:

    Hi. Can someone help? I was diagnosed heterozygous for both 677 and 1298. I’m getting confused with my reading. Does that mean I got one from each parent or both from one parent? Also, I’ve been suffering with anxiety and panic attacks daily for 7 years. Stress brought them on each time. I also have pretty bad reflux and lpr symptoms since the summer when I got food poisoning or something. (Lpr is increased mucous that feels like it’s choking when it meets reflux in the mouth, swollen throat, throat spasms, etc). Could these things be from this genetic issue? I’m lactose intolerant so I avoid dairy now.

    • Michelle Shanks says:

      hi Terri,
      I have had those throat mucus swellings and initially had no idea what they were in correlation to and thought that it might have been motor neurone starting up. I can tell you now, that i no longer have those symptoms, so there is a good chance that it could be the MTHFR, although I have rid my diet of all wheat, gluten and dairy and sugar ( I feel so much better and it hasn’t been easy, but the benefits have made the struggle worth while and I thoroughly recommend it to anyone who wants to claim their health back )…I also have previously had anxiety in all the worst debilitating forms, so understand what that must feel like for you. You are going to find that you are going to begin to feel a lot better once you get a good protocol for YOU. What works for others, won’t be your magic want, so do as the Dr says, start low, slowly and make sure you only do one thing at a time. You need to find a practitioner that has a good understanding of this, or is prepared to educate themselves to help you. Good luck and …Good Health!

  • Liz says:

    Very interesting reads above…thank you!
    Me – 53 y.o. Female
    Very active, use to be a body builder, very organic, non drinker, smoker
    Graves disease at 13 y.o.
    Goiter the size of a grapefruit removed age 15
    2 miscarriages in my 20’s and 30’s
    March 2013 – 30lbs weigh loss before a major flair up
    Aug 2013- Extreme muscle pain couldn’t move for 1 month
    Brain fog
    Speech/word finding issues
    Excessive Thirst
    Can’t process heavy pain medicine or alcohol or anesthesia
    Mercury Poisoning
    Connective Tissue Disease
    Elevated Thyroid Antibodies

    Only medicines are: T-4 – 135 micrograms, T-3 – 25 micrograms, 10 mg Prednisone for inflammation

    Visited many doctors since September 2013 to find out why I couldn’t move and the muscle pain and inflammation. My last stop was a Rheumatologist in February 2014 who was smart enough to test me for the following:

    ***MTHFR – Compound Heterozygous C677T/A1298c ***

    JUST DIAGNOSED TODAY – the pieces of the puzzle have finally come together!

    My son venous blood clots at age 16 for no apparent reason
    My daughter Rapid Cycle Bi – polar, drug addict, placenta previa with 2nd child
    Father Psoriasis, Obesity, Border line Diabetic
    Sister Epilepsy

    • michelle Shanks says:

      wow Liz…thats a handful!
      You can hopefully get to feeling better quickly with the right help.
      Are you in Australia? Sydney?

      • Liz says:

        No Michelle, USA…My active life has come to stand still, I am scheduled to see a hematologist in March to have more blood tests. I plan on having my kids and my grand kids tested. For years all the doctors where testing me for everything except this and I have been treated for all the above, but no one has ever put the pieces together until now. I will make sure I spread the word to my friends who have similar symptoms to ask for this blood test…NO ONE needs to suffer anymore. Supplements are no strangers to me… Looking back at my life I felt the best when I was pregnant…Spirulina and Pre-natal vitamins…Imagine that. Forgot to mention my Mother, Cancer in three different places. Genetically, Eastern European and Native American.

  • Celia says:

    Dear Dr. Ben, I am 61, “MTHFR – Compound Heterozygous C677T/A1298c”. Was sick for years,months at the time: IBS, nausea, terrible month-long headaches, palpitations, heart pain radiating into arm,, possible chronic Lyme/bartonella, prolonged resp. infections. At some point 2 years ago tried methylation protocol, took B supplements, and after that have high B12(1500) and folic acid levels in blood ( 2 years ago had normal mid-range levels). After last viral infection/bronchitis feel worse than even before: no strength, can’t even stand up without heart rate jumping to 150, and then my heart aches for a while and I am all shaky… So I stay in bed all day. Basic blood tests like chemistry, CBC, sugar, thyroid are OK. Heart docs were always puzzled by my complains, and do not know what causes the problem now. My Eho was always pretty normal, ECG is borderline for years with signs of pericarditis.However most docs do not believe in chronic pericarditis…or “chronic” Lyme for that matter…I recently started DOXY 200 + Rifampin 300×2, but so far no relief… I hope very much that you could recommend some course of actions for me to take. What test should be done and how to do them? Thank you. Celia.

  • Linda Sharp says:

    Hi Dr. Lynch! I have Lyme disease. Tested positive for two A1298C defects and my De. put me on 15mg Deplin. My lifestyle is extremely healthy, but Lyme is prevelant! Comment on defect treatment you might prescribe? Negative for C677T.

  • Christine says:

    I found out recently that I am Homozygous for A1298C so my ND put me on a 5-MTHF, 1mg supplement made by Thorne Research. I am supposed to take 4 capsules per day. I have been reading a lot online about people taking B-Vitamin supplements in addition to the MTHF supplement. I asked my doctor about this and she said that I did not need the B vitamins because my bloodwork showed that I am not deficient. Do you only need to take the B Vitamins with the MTHF if you are deficient??? Can anyone help me answer this question?

  • Elizabeth says:

    B12 tests are flawed–you can have adequate amounts in your body that aren’t getting into cells (also, big debate about the “normal” ranges). MMA and homocysteine tests together can better show if there’s a B12 deficiency. But could probably skip more tests, which take time and cost $$–becauseB12 even in high doses is not dangerous, so it doesn’t hurt to supplement–and best to avoid cyanocobalamin form. Some people need adenosylcobalamin, others do well with hydroxycobalamin, others with methylcobalamin. Hydroxycobalamin can be taken later in day w/o risk of disrupting sleep.

  • Sadie says:

    Hi, I appreciate reading all of your posts. I am homozygous mthfr a1298c. I have had 2 miscarriages, a late miscarriage resulting from spina bifida and 1 healthy birth. I am pregnant for the 5th time currently 5 weeks. I am taking Folgard 2.2 twice a day, nexa plus prenatal (I was taking neevo dha with the l-methylfolate) but according to my pharmacy the manufacturer discontinued it, so taking nexa plus. Baby aspirin daily. I read information about methylcoalbamin should I be taking that? Or should I supplement with l methylfolate? My 1 successful pregnancy, I took neevo-dha, folgard 2.2 twice a day, daily baby aspirin, 40mg lovenox injections daily. Doc said lovenox isn’t really recommended for a1298c any longer. Should I supplement with l-methylfolate or methylcoalbamin?

  • terri says:

    Woah woah woah. Wait a minute Dr. Ben. You don’t think 1298 hetero is a big deal. I’m compound hetero 1298/677 and suffer years daily with panic and anxiety, which, if I remember correctly is caused by 1298. So does this mean you believe 1298 isn’t responsible for my mood issues, panic and anxiety and constant congestion and lpr symptoms with throat spasms? After all, these are related to 1298 but I’m heterozygous for both.

    • Dr Lynch says:

      hi Terri – there is more than one gene in the body 😉 In the beginning, I, too, was guilty of blaming everything on MTHFR; however, we need to understand there are many other genes in the body – not to mention possible disturbances from pathogens, xenobiotics, nutrient deficiencies and so on.

  • Nena says:

    I am •Compound heterozgous A1298C + C677T MTHFR mutation. Would you recommend following the protocol written for C677T heterozygous or •Homozygous C677T as there doesn’t seem to be a protocol for the compound situation. Help greatly appreciated. I have been struggling with Fibromyalgia and Chronic Fatigue among other things and I had no idea these mutations could be contributing to my symptoms. I’m gluten free and vegetarian. I take a curcumin supplement already and Vit D3 and a probiotic but no methyfolate. I’m wondering if the B12 Lozenge With L-5-MTHF would be the place to start?

  • Diane says:

    Hello Dr.Lynch,

    I recentley diagnosed with homozygous mthfr A1298C oddly from my ear doctor. I have a couple rare inner ear conditions from a combination of barotrauma and Eustachian Tube Dysfunction that cause 24/7 dizziness, brain fog, vision issues and headaches. My Vit B12 is 260, MMA <20, homocysteine 12, Vit D 14, Ferritin 6, T3 Free 2.6, blood glucose 100. I think those were all the abnormal levels. I have had RA since I was 12 and recently was diagnosed with Sjogrens Syndrome . I also have severe GERD. I read that your wife also has severe RA but help you were able to help her by treating the mthfr. Im currently taking Simponi and even that only reduces my symptoms by 70% my Rheumy wants to to add a 2nd med but Ive decided to try to treat the RA with dealing with the mthfr. I just started seeing a specialist for this. Right now we are dealing with the T3, Ferritin, Vit D and BG. She wants to do gut testing before treating the methylation issues. Have people with RA been able to come off the biologics by just treating these mutations? Thanks!!

  • Stefany Camba says:

    Compound heterozygous….don’t know where to start. I also had the gene testing you recommended.

    Tried metafolin and it threw me under the bus…even 1/4 tab. Tried adding Niacin, didn’t see it helping.

  • Heather says:

    I received lab results that say 2 copies of the same mutation (A1298C/A1298C) were identified. Results for C677T mutation were not identified. What, if any, is the significance of 2 copies of the same gene being identified?

    Thank you,


    • terri says:

      Heather, it’s a homozygous polymorphism and it means that gene is functioning at about 10%.

      • Roberto says:

        10% a A1298c homozigous???? Are you kidding??? Where did u get this datas?? And what percentage do u think C677T works , 0%?? All a1298c and c677t homo would be already dead!!

        Anyway Dr Lynch said A1298c is no longer important for him, so i wonder why this website is still online!

        • Susan says:

          Roberto, will you provide the link where Dr. Lynch says A1298C is no longer important to him? I want to verify and see if he indicates homo or hetero.


          • Roberto says:

            Dr Lynch September 24, 2013 at 7:46 pm # Reply
            Lea Ann – my view on A1298C has changed. I do not think it is that significant when it is by itself.
            That said, there are countless other genes in the folate cycle which may causing significant issues – beyond MTHFR – such as MTHFS, TYMS, SHMT, MTHFD1, FOLR, etc.

            Do avoid folic acid. Use only folinic acid and methylfolate. Work with your doctor on these.

            Thank you

          • Susan says:

            Thanks Roberto. I found other references in these posts around the same time as the one you posted about 1298c that might imply Dr. Ben thinks homozygous a1298c is significant but to what extent is not yet known. I feel we need more information and more research to know for sure. I do know my homozygous a1298c daughter has not been as sick as my combined heterozygous daughter but she has had some significant health issues that may or may not be related. It is confusing however and I do wish he would be able to find the time in his busy schedule to update this blog for his current thoughts on a1298c.

          • Roberto says:

            Susan, i must point out that i havent really understood what’s the actual opinion of Dr Ben on A1298c. I noticed he say often “single A1298C MTHFR mutation” as not-significant and maybe he means , when he use the word “single”, in fact “heterozigous”; so it is not clear if he believes that heterozigous is no more a concern or that also homozigous is no more a concern for him.
            I think Dr Ben should explain himself more clearly on this subject.

  • Elizabeth says:

    Why so hostile, R.?! Pls. let this be a helpful forum where we can exchange questions and information and seek greater understanding and accept imperfection, which comes with a fledgling field that adds new knowledge almost daily and also busy lives.

    • Roberto says:

      because you can’t share wrong and alarming informations to people who are prone to get worried. Dr Linch is the dr here, isn’t it? So let him do his job, and do not give to people exaggerated informations, tnx

  • Hi Dr Ben.

    After nine months of treating my methylation defects, I’ve felt no improvement at all.

    But one thing that I have noticed is that even very small doses of folate, whether from supplements or from green leafy vegetables, seriously disturbs my sleep. I get to sleep ok but wake often and early. I had very similar sleep disturbance many years ago when a doctor experimented with Aurorix, a monoamine oxidase inhibitor, which reduced the activity of my MAO-A enzyme even further.

    My variant methylation SNPs (I’ve left out the others which are ok) are:
    MTHFR A1298C +/+
    MTRR 11 +/-
    MTRR A66G +/+
    MAOA R297R +/+
    CBS C699T +/-
    COMT H62H +/-
    COMT V158M +/-
    VDR Fok Ff
    VDR Taq Tt

    I note that you’re no longer so concerned about the MTHFR A1298C variant.

    I’ve been taking large doses of various forms of B12 to address the MTRR variant.

    I understand that the R297R is a low-activity variant of the MAO-A gene/enzyme, but why would even tiny doses of folate (less than 50mcg) have such a big effect on my sleep?

    And can you suggest any way to enhance/boost MAO-A activity?

    Thanks, Steve.

    • Roberto says:

      Me too i’m having the same issues. I m too A1298C ++, comt +- and maoa +. 1000 mcg of methylb12 and 500 mcg methylfolate send me in overmethylation with immediate nausea, agitation and insomnia. So i avoid it. but right now i’m on 130 mcg methylfolate, about 80-100 mcg folinic, and i take 500 mcg of hydroxy one day and 1000 mcg adenosyl the other day, but i still have sleep disturbs despite i feel no improvements during the day. I can’t take less of 1000 mcg adenosyl because i use the source naturals dibencozide of 8000 mcg each that i split into 8 small pieces,

  • Nancy says:

    Gee, I really admire all of the people in this forum – all those who are trying to understand why they and their families have chronic health issues. I am in that group – 15 years. I have many of the neurological issues, sleep, pain, etc that resulted in a Dx of CFIDS/FM. I realized that my multiple issues were shared by others in my maternal line. I have led a large support group since 2001. Both me and my daughter have spina bifida occulta. No health issues with these mild anomalies of L-5. but what does it mean? As time went by doctors found more odd structural issues: scoliosis – my son, too, hemagiomas in liver/vertebrae, high arched palate- with underdevelopment of the upper palate, fnger/feet/toe anomalies, cervical ribs, one side of face slightly smaller, and more. In my family various issue come up: congenital heart issues, asthma/allergies, late descent of testicle, redundant colon ( more important than most docs appreciate), poor eyesight, etc.
    Yet, interesting, this side of the family also has great gifts – intellectual, leaders, spiritual gifts, caring/ kindness. hmmm. Found that other support group families were similar.

    My son developed sleep issues, pain, multiple issues after a well- documented infection with EBV at age 4 – 1985.

    So methylation seems important, but also think people must look at body structure- perhaps a result of a methylation issue?? Particularly – neck and pelvis/sacral issues. My life changed when I had a neck/ sacrum injury in 1998. Never recovered.

    Please check out the site of a neurological chiropractor, Michael Flanagan, DC. Also, look at “Chromosome 22q 11.2 deletions” if there are various structural issues in your family, as there are in mine.

    May we all find the healing pathway.

  • Stefany Camba says:

    Are you doing private consultations? I am compound hetero and have 23 and me test results, but don’t know how to apply them to my symptoms and problems–depression, fibromyalgia, insomnia, memory issues.

  • Jan says:

    What is protocol for compound heterozygous beyond dietary changes? I have had a 21 year migraine and need HELP. I am not feeling any better – been gluten free, diary free, etc. for months. I am also homozygous for Factor V Leiden. Do I follow basic protocol Part II for MTHFR homozygous?

  • Kathleen says:

    I just learned that my son (turns two in 3 weeks) is Compound Heterozygous. He has one copy of C677T and one copy of A1298C.
    He has delayed speech and poor balance. He had poor eye contact and several soft signs of autism until we started a gluten-free, casein-free diet in December. Those signs have all disappeared but the speech delay remains.

    What do I need to do to treat this condition? There are no doctors in our area who specialize (or even know about) this condition and how it can impact our son’s life. Aside from reading through every page of this website (that’s on my to-do list!), what else can I do for him? What are the key things I need to be aware of in dealing with MTHFR?
    Do you do phone consultations?
    Thank you!

    • Michelle Shanks says:

      Hi Kathleen,
      Speech delay in boys is, I think, not an uncommon occurrence to start with…little girls just love to chat away and sing etc.
      My son is homozygous A1298C, as am I.
      He had low receptive language disorder that went undiagnosed until he was 5.
      He and I were together constantly without a lot of people around us, so we kind of had our own language and understanding for what he needed.
      He is now 17 and doing brilliantly,He is an excellent drummer, surfer, studies, advanced maths, chemistry, physics and Japanese extension, which he speaks well. who would have thought!
      This is what I want you to know:
      Whilst they are quiet and non responsive vocally, don’t think that they are not taking things in, so keep plying their world with information and stimulation, lots of background noise with taped stories they can turn pages to in their books, story cd’s in the car and learning videos where they have to repeat the speech, like Dora the explorer.
      aside from that, do you know about brain gym?it is the method used to open the pathways in the brain, basically a left brain/right brain activity. ( thats why the drumming is so brilliant) if you google brain gym you will most likely find activities you can implement and make a game of on a daily basis….a kind of physic without the $$$
      Word association is important…so each time you hand your son an item or he picks up a toy, give him the word for that item and encourage him to repeat it and make a big deal about how clever he is…praise praise praise.
      Google, the limbic system…..this is how the brain processes auditory/vocal/visual information and once you understand the correlation you will be able to watch your son to see how he is processing and work with him from that angle…my son was visual…still is, so we had to give lots of visual language cues to aid his learning, so lots of picture books and memory cards. furthermore, we had a doctor who specialised in acupuncture and she was able to use laser acupuncture to treat, basically bringing the left and right sides of the brain into balance, because in his case one side of the brain was firing faster than the other ( not the technical explanation) and his thoughts were too rapid for him to unravel and that was what was hindering him. Some days we would take him for treatment and he couldn’t string two garbled words together and afterwards he would monolog like a poet.
      Fish oil daily, the kind made palatable for kids, reduction or elimination of sugar substances, a whole food diet with lots of greens, beans, broccoli, carrots etc, no junk.
      Knowing what I know now, i would not have worried as much as i did, because the stress i put myself under to make him “perform” put him under pressure.
      Most importantly…probiotics…good gut health…..

      Obviously, not everything at once, and not everything will help….but as you have seen a vast improvement with dietary changes, I would start with a practitioner range of child specific dairy free probiotics,the powdered form, and make sure to eliminate sugar from his diet with the exception of fresh fruit. We didn’t have family around to help, but if you do, get everyone on board with what you are doing and encourage them to use very specific language interactions with him. We had over five years of speech therapy amongst all the other stuff, but you are aware of his challenge much earlier, so with some intervening measures, language specific interactions and dietary changes, you can really make a huge difference to your sons language skills. The general protocol seems to be to start with one thing and monitor. I believe that the probiotics make the most sense and wish I had known to do that for my son right up front.
      Hope some of this information helps you. try not to over worry and don’t feel alone. go and be social with your son and encourage group interactions/playtime so that he can soak up and absorb language for use later on…..( I can’t get my son to shut up now! :))) Hugs!

  • Ann says:

    Hi Kathleen, you might find some additional info on Thinking Moms Revolution website. Many there have had success helping their children with autism including speech. Also any yasko website. She has a forum that gets answers. Good luck

  • Nancy says:

    Stefany, I have the same symptoms you do, and I just am not sure what to think. Is it thyroid ( important to explore) the MTHFR mutation ( I am only heterozygous for the A1298C) or some other enzyme, or is it structure – in particular the upper neck, atlas and occiput issue. Or is it a new virus ??
    I am hoping a naturopath will help me with the MTHFR/enzyme issues and thyroid ( despite normal test results – check out site : Stop the Thyroid Madness)
    Also, check out You Tube – search for Richard van Konynenburg’s lecture on this whole issue of the methylation problems. Will definitely try some form of folate/B12, but want to do this with help of a naturopath.
    Kathleen, my son had speech issues for many years. No one could understand a word he said. In school he was in speech class and the Resource Room ( pull out). He wore the same pair of shorts all year in 4th grade. He could not do any ‘homework’ – was too stressful. We just put NO pressure on him, and gave encouragement. If he needed to stay home from school – fine. Well, about grade 6 everything started to come together. He graduated valedictorian of his large high school class – with many AP courses. Graduated magna cum laude in computer science from UCSB, got a MA degree. Has own business. Just bought a $100,000 sports car, got married, just had a little girl.
    These kids are VERY special and very sensitive – take much patience, kindness. If I had it to do over again, I would have gotten him to the best pediatric osteopath I could for some gentle craniosacral work, and consulted with a nutritionist.

    • Stefany says:

      Nancy…..I have been diagnosed with fibromyalgia more than 22 years ago. I tried methyl folate in very small doses, but it flares my pain so badly I stopped.


    Dr. Lynch,
    I have the combined heterozygous C667T and A1298C. I can’t find a doctor anywhere that can help me. They don’t understand the variant report from 23andme testing and I’m going downhill. I don’t know where to start for supplements and I need to do something ASAP. I have a histamine rash reaction and it doesn’t seem to matter what I eat; no rhyme or reason. Please can you tell me where to start.
    Thank you

  • Stephanie says:

    I have a1298c homozygous, and I have trouble with my invitations levels. Now I am confused.

  • Pascal says:

    Hi everyone,
    I’m 32. We found out I was 1298c homozygous after finding my B12 at 250. Regular doctors and neurologists didn t care about my low b12 as I was still in the “US range” and my other blood test and homocysteine were fine. A naturopathic doctor did care and we did the MTHFR research.
    My symptoms were pins and needles all over the body, global inflammation, trouble of balance and sensation, weird sleep patterms, extreme fatigue muscle pain …
    I ve been getting B12 injections weekly and active Bcomplex for 3 weeks, I m still struggling with chronique fatigue and muscle weakness/inflammation

    • Lynn_M says:

      What kind of injections are you getting? If they’re cyanocobalamin, they won’t help you. You need methylcobalamin or hydroxycobalamin.

      • Pascal says:

        Thank U Lynn, I m getting Methyl cobalamin 5mg/ml.

        I’m also dealing with weird redness that comes and go on my forearms with burning sensations, altered sensations and stiffness which looks like repetitive motion injuries a lot since I spend my days on the computer ( going to see a chiro who also deals with emotion release next week )

        • Lynn_M says:

          From the symptoms you described initially, sounds like you might be have been B12 deficient for a while, possibly long enough to cause nerve damage. When you start taking B12, the serum levels go up pretty quickly, but the myelin sheath on the nerves won’t repair as quickly. You have to wait for that to turn over and be replaced before any symptoms related to that will improve. It can be a slow process. And sometimes, as the nerves reawaken, you can get unpleasant symptoms.

          Did you have the redness, burning, and stiffness before you started on the injections and active B, or did they start later?

          • Pascal says:

            Thank U for these great informations Lynn.
            I’ve probably had a low B-12 for a very long time, and yes I had all these symptoms before starting B-12 injections.
            I had a nerve conduction test done and nerves were very healthy.
            The good news is I have no more pins and needles and no more trouble of balance, but still some crawling/altered sensations here and there on legs and arms.
            Nobody was able to clearly tell me what the redness was so far, except that it is probably inflammation due to over used wrist/forearms at computer.

    • Roberto says:

      Hi Pascal. When u speak of 250 do u mean pg/ml??Or pmol/L?? 2 years ago i found out i had 154 pg/ml of b12 in blood but never had such disturbs has you refer, and it seems a lot lower than 250… Anyway cyanocobalamin shots rose my serum levels but gave not relief from the possible disturbs (mainly depression, fatigue and sleep issues). Methylcobalamin send me easily in overmethylation so i never followed a real b12 protocol. Just recently i began xydroxy and adenosil…

      • Pascal says:

        Hello Roberto, my b12 was 250 pg/mL

      • Lynn_M says:

        B12 tests measure the combined amount of active cobalamin, transcobalamin, and the inactive form of haptocorrin. It’s possible Roberto had much more of the inactive form than Pascal did, despite Roberto’s higher B12 value.

        MTHFR requires a number of cofactors in addition to methylB12 and methylfolate. Pascal should assure himself he has adequate B1, B2, B3, B5, B6 and adenosylB12.

        • Lynn_M says:

          I meant to say despite Pascal’s higher B12 test level.

          • Pascal says:

            lots of symptoms disappeared with B12 injections and Active Bcomplex, no more pins and needles, no more trouble of balance and weird sleep patterns.

            I m still getting stiffness, weak muscles and trouble of sensations in my arms with inflammation ( after effort and computer typing )

  • Sharlot says:

    Re: B12 Deficiency. I am heterozygous A1298C. Also have B-12 deficiencies among other things. The most recent test revealed Intrinsic Factor. Diagnosis Pernicious Anemia due to B-12 deficiency. Therefore doc wants me to have high serum levels above lab ranges of b-12 due to intrinsic factor. I get methyl b-12 shots and take sublingual b-12 1000mcg 2xday. She wants me to work up to 5000mcg daily. I also seem to have blood volume issues which affect other things and leave me with a myriad of symptoms.

  • jennifer thompson says:

    I am confused on test results. One test says patient has normal wild type C677t (C/C) and A1298C (A/A) What does this mean? the comments from the lab says patients with this combination are expected to have normal enzyme activity. Can you explain this?

    I am confused!

    • Lynn_M says:

      Those test results mean the patient has neither the C677T mutation nor the A1298C mutation. Wild means unmutated. In this nomenclature, the first letter (C and A, respectively, for the above 2 SNPs), is the unmutated version, and the last letter (T and C, respectively) is the mutated version.

      Nothing to be confused about, it’s all totally straightforward – no mutation means normal enzyme activity.

  • Corina says:

    I was told today by my PCP that I have one Heterozygous MTHFR A1298C mutation that apparently was found in blood work back in 2009 right before I had my youngest child. I haven’t been to see my PCP since about than, & I only went today because my job had me do a wellness check for our insurance. I didn’t have a reason to go see her I never sick or had a reason to go see her and if I was sick I took someone over the counter for a slight cold etc and I was better in no time. With her telling me this, everything at this time is a blur & I couldn’t even imagine where to begin since I’ve read all the comments/stories above and I don’t have symptoms or came across a severe medical problem. I have more blood work being done for further information but I’m at the point right now just to find out more about it, what can I do, what caused it, how will I be affected, do I need to change anything at this point as far as lifestyle since I’ve been pretty healthy, are my kids affected and what should I do and what do I do from this point going forward for me and my children. At this point, I don’t want it to be something that takes over my life so I can sit here sad and depressed that I was told I have this but before I was told I was 100% I’m not one to fall back, I’m going to take in the info & bounce back even better trying to research and find out what I need to do since none of this makes sense to me. One day at a time, researching…..

    • Tracey says:

      I am actually homozygous for the A1298c defect and have no symptoms myself. My daughter does have symptoms though. We have not tested her but just started giving Thorne’s Methyl Guard and her symptoms have improved greatly. Good luck!

  • Elizabeth says:

    It sounds like the mutation is not being expressed and so is not a problem for you. It makes sense to know what to watch for if it ever gets turned on, though maybe it never will, which would be great.

    • corina says:

      well like I mentioned I was just told about this yesterday so everything is new and its not that it wasn’t Express or are not worried about it I guess I’m just in my early stages of getting all the information I mean about this type of condition because by the other comments I’m reading above I don’t have any of those symptoms or issues at least at the moment not saying that I want but right now I’m trying to figure out everything I can about this

  • brenda s says:

    Hi Dr, Lynch,
    I see where many have asked now but there is not really a clear answer that i can find. Can you please give a basic protocol for someone who is hetro/combo as there seems to be many of us struggling with this. Thank you for all you do, Brenda

  • Bonnie Bronaugh says:

    4/23/14 I just found out I’m heterozygous for the A1298C mutation and negative for C677T my mom and both sisters are on Coumadin. Both my mom and older sister have blood clots. My younger sister had a a stroke. My mom has had a blood clot in her leg for 3 years. My older sister has a clot in her calf, behind her knee, multiple ones in her lungs and one by her heart. My Hemotologist told me there’s nothing I should do to prevent clots. Is this right?

  • Corinn Whann says:

    I have a homozygous mutation for A1298C and heterozygous for 677T. I have several autoimmune conditions- Hashimotos, psoriasis, and rhuematoid arthritis , as well as suspected Ehlers Danlos and mental health issues. ‘My homocysteine had been elevated in the past but it was checked a few years ago and it was normal.
    My son has the double heterozygous for both and has thyroid(suspected) schizophrenia, PDD and EDS. We also have cytochrome p450 2PYD null alleles. My md just prescribed me deplin to help with depression.
    Any thoughts or insight?

  • Carol Stribula says:

    Hello everyone,
    I thought I had posted on here last November or December but apparently not. Our younger son, who is now 18, was diagnosed with Compound Heterozygous C677T and A1298C in October, 2013, and I was also just diagnosed with the same.

    My son has Lyme Disease, and was tested because of extreme fatigue, and has been taking 5-MTHF and two other supplements since without much improvement in his energy levels. I began taking the 5-MTHF supplement soon after he did, and almost immediately noticed a difference in my energy levels. I also switched to a proper multi-vitamin, and after learning of my diagnosis last week, began taking Methyl-Protect as well.

    I feel like with my son, his diagnosis explains a lot: needing lots of sleep (always), frequent cold/allergy symptoms (general immune system issues), speech delay (though he has no problems now and is quite smart; not a genius, but a very thoughtful and insightful learner). I think he still has some articulation issues but not always. He’s trying to eliminate gluten and dairy (though he was never fond of milk anyway — go figure), and reduce sugar. He also plans to begin exercising again next week, despite still feeling pretty lousy from the Lyme Disease, as he knows this will help eliminate toxins from his body. He’s already been accepted into the college of his choice to study elementary education and minor in Christian Leadership; we just hope and pray that he gets healed enough to be successful. He sees a specialist for the Lyme Disease; she was the one who diagnosed his MTHF issues.

    When I think back on my life, I wonder if I always had this condition, or if my genes mutated over time…does anyone know the answer to this question?

    I tended to get sick with horrible colds a few times a year, and do have a slight speech impediment (I never considered myself to have a “stutter” until my first job after nursing school, when my boss’s boss informed me of this). Then I began noticing it. I have to say; I actually think this has improved lately. I’ll have to pay more attention to this.

    I had no trouble becoming pregnant with our older son, who is now 24, and I was an “older” mom — 35 when I became pregnant with him. Four years later, when we began trying to get pregnant again, I had two miscarriages, two years in a row, but we all thought it was my age.

    After learning about my diagnosis last week, I am aware even more acutely of what a miracle baby our younger son is. Amazing!

    As I grew older (I actually turned 61 today), I never had cholesterol issues, because I kept my diet pretty clean. I did start to gain weight, had high blood pressure, and as I reached menopause, began to have insomnia and mood issues.

    To make a long story shorter, two years ago, in March of 2012, I was diagnosed with Hashimoto’s Thyroiditis (my numbers weren’t very high, but high enough) and a few months later my new Integrative Physician also diagnosed me with Adrenal Fatigue, low Vitamin D, low Selenium, low Zinc, and low Magnesium.

    Also in March of 2012 I became aware of essential oils and began using them and essential oil-infused supplements to begin supporting what my Integrative Physician eventually began prescribing. I take Nature-throid, a compounded T-3 preparation, Vitamin D, and 2 different medications for sleep, in addition to using many essential oils and essential-oil infused supplements. One of them supports my immune system and helped me get of the allergy medication I had taken for 9 1/2 years. I was also able to get off the anti-depressant I had taken for several years, a little over a year ago. I should mention that I also began using an essential oil-infused natural Progesterone serum two years ago, and added an essential oil-infused natural Estrogen product a year ago.

    In October, 2013, all of my labs were just about maximized, so in January I began on a weight-loss program, and I’m happy to say that I’ve lost 29.8 pounds as of this morning. My stamina has increased, I can stand for longer periods on my feet before they begin hurting, and my knee issues have mostly disappeared. I still have sleep issues, and still have to take two different medications, and also use essential oils and essential oil-infused supplements to aid in sleep, and sometimes I have to take more medication in the middle of the night, or I just wake up too early, like today.

    I also give my son as many essential oils as he will let me, and he’s recently begun taking Arctic Ruby Oil; not sure if that’s helping yet.

    Anyway, I’m sharing all this because I think it’s important that all of us tell our stories so we can learn from each other.

    By the way, my son has cholesterol and triglyceride issues, as well as thyroid issues (he just takes a compounded T-3 preparation, as well as an essential oil infused supplement), but it’s hard to know if these issues began because of the gene mutations or because of the Lyme Disease.

    • jennifer thompson says:

      You might want to consider the UBI treatments for the lyme disease. We took our 13 year old son to Dr. Hutton in Sedona AZ for a 2 week treatment.

      Read this when you get a chance:

    • Nena says:

      Hi Carol,
      I am also •Compound heterozgous A1298C + C677T MTHFR mutation, have similar symptoms, almost the same age (turned 62 in Oct.) and I’m a retired nurse and an essential oil user. Would love to communicate and share stories. Symptoms seem all over the board here. I really haven’t seen any questions being answered by Dr. Lynch although members provide advice as possible. If you would like to communicate you can find me on facebook and send me a private message. Nena Gallagher. I would love to hear from you. I’m just beginning this journey, my 23andMe results should be available in a few weeks and I’m scheduled with a Functional Medicine Doctor.

  • Pascal says:

    I ve been treating my 1298c homozygous with B12 injections + Active BComplex for 2 months, I m better but suffering crazy altered sensations and still a bit of pins and needles and tight/weak arms . It get worse if I spend a lot of time at my computer. Does anybody know how to get rid of this ?

    • Pascal says:

      A little update for people who would be in the same case as me ( see below for descriptions of my symptoms ).
      The b12 injections+ oral BComplex put me close to be back on track. I still have some inflammations with redness and stiffness in arms when at computer + weird sensations all over the body ( altered sensations ).
      We stopped doing B12 injections and 2 weeks later I was feeling terrible again even if my B12 level is now at 1400 ( was at 250 when symptoms appeared ) so we started B12 injections again and feeling almost well again.

  • Desiree says:

    I am confused. When a test refers to having a double copy of 677 and 1298 does that mean compound heterozygous? I have been sick since birth complete with heart defect and every doctor ive seen over 25 years has called me a hypochondriac. I stumbled upon this during a routine DNA test on I enlisted in the Army in 2007 and in late 2008 suffered multiple TIA strokes at age 19. I have been relying on both the Army and now the VA to diagnose what is going on but instead they put this down as seizures with TIA. Confused?

  • Debbie says:

    I have written to you quite some time ago. I am very confused. I have two copies of the A1298 mutation, what does that mean? I found this out after having my thyroid removed due to cancer but I have had severe allergies my whole adult life. Started in my early thirties. I had chemical enclosure on a job. Took several years to manifest itself. I almost died from these reactions. Mouth burning, tongue swelling, breathing difficulties. I have lived in a bubble most of my adult life. It was a miracle I came through the surgery as I cannot take ant medications or supplements. Do you have any advice for me. I am really struggling since they took out my thyroid. Constantly symptomatic.

    Thank you,

  • Matina says:

    Hi Dr. Ben.
    I hope I am fortunate enough to get a response from you. I know I have written in the past with regard to being C677T and on failed anti depressants with bad reactions to the combination of Methlyguard and them. i believe it is the B6 P5P that I am reacting to with worsened anxiety as i have tried B12 methlycolobamin lozingers and folate in the past alone with no anxiety. I did see a huge difference in my motivation level though and like someone above I go into speedy cleaning, sorting or reorganzing modes! I recently found out though that I not only have the C677T Gene but also the A1298C. It seems that my blood work has shown good numbers with homocystiene levels in the past and no worry there. I also had a food sensitivity test done that revealed a huge sensitivity to dairy and mild to chocolate, gluten, and tomatoes. I am working at eliminating them or drastically reducing them. Though there is a concern there about calcium intake. My biggest issue is the fluctuating depression and anxiety, along with fluctuating adrenal and thyroid issues (hypothyroid) that thyroid meds and supplements seem to worsen after a week or so. I read that B12 actually helps the thyroid too. Do you think one could benefit more from the B12 shots and taking folate supplements with the antidepressants. Also what is your thought on taking a multi vitamin such as the Phyto Nutrient vitamin that has methylfolate and methylcolobamin but the B6 in the other form when one has both of these copies?

    • michelle says:

      Bingo, I think you are right in suspecting B6 P5p Matina, that horrible vitamin has caused tremendous problems in my child and bringing on worse anxiety than what was initially there. The Methyl B12 posed no problem to this child, neither did mfolate, but the p5p was over the top. I would warn parents to be very, very careful with B6 as it has been known to cause peripheral neuropathy and it may not subside anytime soon.

      • Matina says:

        Thank you for your response Michelle. It must depend on whether there is an issue with that pathway. As my friend who is also compound heterogeouz; takes it and has no problem what so ever. However; I do take an anti depressant and that could also be complicating things. I have recently begun trying Dr. Lynch’s Methyl B12 with methyl folate to see if that helps.

  • Betsy Brother says:

    I have just started learning about possible MTHFR mutations for my family and cannot believe how little my doctors know about it. Thank you for providing so much helpful information!

    I have a question about your comments regarding saturated fat. What I am learning through the research done by Dr Price and the Weston A Price Foundation, is that saturated fats are actually critical to health, especially for those with MTHFR deficiencies, and that polyunsaturated oils and sugars are the culprits. Do you have any thoughts on this?

  • Janet says:

    I am Compound Heterozygous C677T/A1298c also. Let’s just say I started with chronic depression at puberty. I have ADHD. I was diagnosed with polycystic ovary syndrome around 26 and started on metformin to decrease my insulin sensitivity. I have ulcerative colitis (may be due to taking accutane which was prior to dx and tx of my pcos which largely took care of my acne). I’ve never been able to come off of anti-depressants due to recurrence.
    I’ve managed to have 3 babies out of 4 pregnancies. After my 1st pregnancy I developed periodic limb movement syndrome which has gotten significantly worse with each pregnancy and it has never resolved. I’ve taking mirapex, 0.25mg in the beginning and up to 1mg till recently. The large amount was affecting my milk supply so I have cut back to 0.25mg mirapex along with 1200mg horizant (gabapentin ER). Along with various other sleep aids I am just barely able to sleep. I do take 10mg domperidone three times daily for milk supply.
    I’ve been taking some form of l-methylfolate for the last 2-3 years. I take podiapn twice daily now. I also take a prenatal RX that has 400 of quatrafolate. My temps always run warm, up to 99.8 for no reason at all. We live with the AC on 68 degrees throughout the non-frigid months.
    My homocysteine levels are normal as well as my ferritin and thyroid (free t4 and t3, etc). I’m going to try niacin to see if it helps with the heat or flushes but I’m miserable. My lab results don’t say if my to different site mutations are on the same chromosome or not and I don’t even know if this matters. Any recommendations?

  • Fiona says:

    Hi Ben
    you mention the being heterozygous for the A1298c variant will not show high homocystine but my partners levels were 13.4 with elevated cholesterol and significantly lower white blood cell count. I am presuming that there are other issues going on here

    • Dr Lynch says:

      Hi Fiona – there are a TON of reasons for elevated homocysteine. MTHFR is just one gene in the body. You’re correct stating there are other things. BTW – high homocysteine and high cholesterol do tend to go hand in hand. Consider having him supplement with fish oil (EPA/DHA) and phosphatidylcholine – something like Optimal PC. These will help his cholesterol and lower his homocysteine.

  • Pam H. says:

    I recently found out I am compound heterozygous for A1298 and C677 snps. I have been very ill and getting worse (I can hardly leave the house anymore). Very weak, losing weight by the week. Although I take several supplements, I feel like the key is in finding a doctor who can help with this problem. How can I find a list of doctors in my area who is knowledgeable about this?


  • Susan says:

    My son, 41, has had a major stroke and several milder ones. This week, we learned that he is homozygous A1298C, which has been the only abnormal test result, and they have tested everything they could think of. We need to understand what it is about A1298C that leads to blood clots, preferably before the docs insist on blood-thinners.

    Is there any evidence or suspicion that Advil or Bystolic trigger clotting? We need to know what to avoid while we are figuring this out and looking for a doc who is familiar with the MTHFR problem.


  • Alicia says:

    you forgot to mention dystonia in this article – A12898C (and T677C), according to this article, causes movement disorders in general, including dystonia which I happen to have and has gotten better as I have treated MTHFR

  • JG says:

    Using Livewello (and 23andme), I discovered recently that have methylation issues (homozygous mthfr a1298c, normal c677T). Over a decade ago organic acid / B-complex testing found deficiencies in B6, B1, and folic acid….however, supplementation at that time (with regular folate and b complex) made me feel strange, so I stopped. Now, after all this time I find confirmation of the methylation problem (with support issues as well).

    My issue: after restarting (slowly and progressively – 2 weeks) with b1,b2, methyl/adeno-B12, NAC, molybdenum…I added methylfolate (1000 mcg). I wasn’t expecting much of a response (…with just a1298c mutation), however the effects were fairly strong within 24 hours (energy, mild insomnia). I backed off for a few days and resupplemented (again 1 mg) with higher dosing of support (B1, B2, NAC, Mo, methyl-B12). This resulted in a milder “high” of greater mental acuity and physical energy…and….a pleasant surprise…less reactivity to seasonal allergens. With an every-other-day supplementation approach, I ended up still with mild sleep problems. So…I stopped the methylfolate and continued with the B complex (including methyl b12).

    The problem:
    I have had very significant wooziness/dizziness (4 or 5/10)…seemingly related to my vision…that has caused some concern and triggered some anxiety. (2/10). Niacin (100 mg) does not appear to work (delayed, but sustained flushing) to relieve the dizziness.

    The question:
    Is this dizziness an adverse reaction to methylfolate (i.e. over methylation), reaction to due inadequate support, or a “withdrawal” symptom (neurotransmitter decompensation)?

  • sue says:

    I have just been diagnosed heterozygous A1298C. I have suffered with muscle pain for 25 years. Been to numerous chiropractors, massage therapists, and doctors. I have tried everything. Finally went to a naturopath that tested me for this mutation. I have been researching on the internet and a little frustrated that so many sites act like this mutation isn’t a big deal. Believe me, I have suffered plenty with this. I eat organic and live a very clean lifestyle. No one could find anything wrong with me until this. I have just started taking Methyl-Guard, L-Tryptophan, L-Tyrosine. I was low in Chromium, Alpha Lipoic Acid, DHEA, Vitamin D, Oleic Acid and most minerals, so supplementing for that too. The first few days were awful, I felt even more exhausted and pain increased, but after a few days I had a good day and kept going. I have just begun this journey and pretty confused with everything I am reading. Why am I not low in glutathione, but I am low in Alpha Lipoic? I just want to say that being heterozygous A1298C is not a picnic for some of us. I am 64 years old and have suffered since I was in my late 30s. Thanks for listening.

  • Stacie says:

    Hi there!
    I received the news today that I’m positive for Heterozygous 1298. I had recently asked my ob to test me for a mutation as I have had two miscarriages in the past 6 months. When receiving my results today, my ob said that there is no evidence that the MTHFR causes miscarriages. Which is fine, but what can I do or take to help me stay pregnant and keep the child healthy? I do have two children, one is a 4 year old girl that has Childhood Apraxia of Speech, it’s a motor planning and speech disorder, and my 2 year old girl shows no signs of having anything. I am wondering if my daughter with Apraxia should be tested for a MTHFR mutation. And if possible, a supplement to help her.
    As for me, I’m currently taking the Triveen-duo prenatals with DHA and omega 3 fatty acid. What do you recommend I take on top of this? My possible Heterozygous 1298 symptoms are memory loss, insomnia and definitely fog brain! I live a very healthy lifestyle (except my once a day Starbucks). I workout everyday, I do not smoke or drink and we eat organic and mostly gluten free. So any advice is greatly appreciated! Thank you, Stacie

  • Stacie says:

    I forgot to mention above that I have had 90% of my thyroid removed due to nodules and hyperthyroidism. I am on synthroid which is closely monitored. Not sure if that has anything to do with everything but thought is let you know.

  • Heather says:

    Dr. Lynch,
    I have been trying to find a doctor for two years now – no luck.
    My symptoms and diseases are so much worse. I am so weak I can hardly walk up the steps.
    I want to self treat myself, I have NO other choice.

    I am Compound Heterozygote.

    I am suffering so badly with so many physical and emotional symptoms to the point that if I can not find a way to fix this that I do not know if I can continue to go on like this. I so tired of being sick and tired. I am not even living life.

    Since I can not find a doctor and I have been to doctors and scoured the internet looking – can not find one.
    The doctors I have been to prescribed me Deplin which did not help, and folbee.
    They do not know how to help and do not learn how to.

    I have to take matters into my own hands, if I dont – I cant go on like this.
    Please tell me what to take or tell me something.

    • Michelle Shanks says:

      I wanted to cry when I read this….I really understand where you are right now. That was me, and even though you haven’t said a lot, I know exactly what you are saying.
      I doubt that Dr Lynch will get back to you soon enough, he must receive literally 1000s of messages a day.

      I want to tell you I am better, and even though right now you don’t believe it, you can be too. I know I used to think it will never get better. BUT IT DID!

      It was a long journey, but based on what I know now, I think you can have a shorter journey if you are prepared to trust that things can be better.

      I don’t think there is any one pill ever that will make this right for you, and I think that treating yourself right now and every day forward from here is the exact right thing to do. Most doctors don’t understand this and treat it from one aspect…generally a nutritionist will have a much better understanding/approach.

      This is what I wish I had done sooner.
      step 1- Fresh lemon juice in warm water upon rising EVERY morning ( repeat at bedtime) this helps clear the liver and alkalise the body.

      Step 2- Take a Vitamin B 12 in the Methylcobalamin 1MG cherry flavoured sublingual ( source naturals brand) (American you could order on line ) and let it dissolve under your tongue ( this apparently stimulates seratonin ( your feel good hormone ) and is done through the lining of the stomach, so I am told. This also helps your body in the methylation process, something that your body does not do naturally if you are MTHFR.

      Step 3- take a really good quality practitioner strength probiotic in the highest dose. You need to heal your stomach and your bowel and influx it with good bacteria so that your absorption ability increases quickly. If you have poor stomach or bowel health your body is going to struggle to absorb nutrients. I am not sure if you are in America, but am assuming you are. Find out what the BEST probiotic is.

      Step 4- Purchase a good quality plant based digestive enzyme capsule that includes bromeliad ( this is normally a derivative of pineapple) Start taking these with each meal, have some with you in your bag if you eat out. This will stimulate digestion in the stomach and will help you absorb nutrients from food, taking these REALLY made a big difference in my ability to uptake nutrients.

      Step 5- stop eating packaged food….yep…this one is a deal breaker.
      If you want to get well sooner you have to kiss goodbye anything that is processed. All that pain you are feeling, that despair, the aches, the tiredness, the lethargy the numbness, the brain fog and the depression… is fuelled by sugar, wheat, dairy, alcohol, preservatives, colourings, additives etc etc.

      When you are MTHFR your body needs these things:
      Leafy green vegetables and salads………
      in abundance.
      This is because these help you to Methylate and you want that.
      Fresh fruits and vegetables, for fibre and nutrients.
      Probiotic foods or prebiotic foods, such as coconut yoghurt, kefir, fermented foods, and on that note, you might want to take a look at Donna Schwenks face book page and visit her website or reach out to her via message…she has a whole bunch of information on probiotic and prebiotic foods that heal the gut and based on your message and what I have experienced i just feel certain that that is where you need to start.

      Give up coffee if you take it.
      Drink a minimum of 2 litres of water a day, preferably with lemon juice squeezed into it.
      avoid all stimulants, smoking, alcohol, soft drinks etc.
      SUGAR is the ENEMY here……it adds to the fatigue, the joint pain, robs your body of so much.
      I can honestly say I am not preaching, and I really hope you understand that I have lived this and when I read your message I just had to reach out.
      I have given up a lot….but I don’t miss it…in fact I can’t believe now that I am well that I did not realise that I was making myself sick. I have always eaten well/healthy, but now I really do.
      my day looks like this if it helps.
      I do the things I told you about above in that order and then I have something to eat, normally a banana and a few raw nuts that have been soaked overnight ( this makes them easier to digest ) and I dip my banana into some chia seeds for extra protein and fibre.
      I usually have a snack mid morning of an apple, some avocado mashed up with some arugala and tomato and cucumber with some cumin and chill and a pinch of celtic salt ( celtic salt is full of minerals )and if i am really hungry i mix in a boiled or scrambled organic egg.
      lunch is often a vegetable or chicken soup made from scratch, no packaged or tinned products and i try to use organic or free range chicken.
      in the afternoon i have a piece of dark chocolate ( full of magnesium ) and some raw seeds, pumpkin and sunflower and eat them together as this is a good combination with zinc.
      dinner is usually another big salad and lots of roasted veggies, like pumpkin and sweet potato and red onion and garlic, red bell peppers and carrots, all roasted in a little bit of coconut oil and some cumin. If we have meat it is always grass fed or organic.
      I always have a ginger tea after dinner or peppermint tea.

      On top of that I take the following.
      For the pain – Nalgesic Curcurmin. this is a natural product, and works really well.
      Vitamin C in a high 500mg dose….three times a day ( get a reputable brand )
      Magnesium citrate in a powder form ( I use diasporal brand ) – I take this EVERY night without fail.
      Your body has over three hundred processes in the body that require magnesium and most people are severely deficient in magnesium and will never know it.

      My health improved out of site when I started taking this Magnesium before bedtime. I sleep better than a baby now…my muscles don’t ache any more, i wake up with energy and I feel calm which helps me cope on the very rare ( now ) days that I feel not 100%.

      If this all sounds like too much to do, pick one thing and start there. do that for a week and then add in the next thing and so on until it starts to feel like a part of your day.
      I wish I could reach out and help you get through this as I hear the despair and I don’t want this information to add to that….I really really really want to encourage you to believe that it can and will get better and if you have no other course of action to take the one I suggest as a starting point. I am not a doctor of any kind, I am MTHFR and I have spent forever feeling like you feel and thought that was how life had to be.
      I will direct you to my practitioner here in Australia who is THE specialist in this field and she has been educated by Dr Lynch. Her name is Carolyn Ledowsky and her practice is MTHFR Support Australia and you can find her on Facebook and the internet in you go searching. she can Skype with you. She can better aide you with your needs for other tests and treatments if you truly wish to be well.

      I really really hope you feel better soon. don’t give up, I had, and then we found a treatment that worked for me…..and you can find one that works for you but you have to empty out your pantry, fridge and freezer and make a to do list for how you will tackle this.
      Also….get tested for copper levels.
      High copper and low zinc can really have a bad effect on your health. I have/had high copper and it makes you feel terrible, but it can be fixed.
      CRP markers ( inflamation markers)
      Candida ( a big one that will be healed by removing most sugar from the diet ( you need to keep some natural sugar in small amounts so the candida can ‘rise’ and your system can eliminate.
      Good luck xxx

      • Matina says:

        I want to tell you thank you also for your post. I am compound MTHFR and continue to seek answers and get off of anti depressants but get ever so close and then crash into major depression. I do want to add that I also take the cherry B12 sublinguals and switched to citrate magnesium which has also helped. I have not had good luck with even low doses of folate or the B6 p5H. I notice that I feel better in some ways when I eliminate dairy and gluton products but without dairy my thyroid becomes sluggish and iodine supplements have not been easy for my sensitive reacting system either. It is a work in progress and balancing act for each of us though and we must not give up.

        • Susan says:

          Matina, Can you explain the connection between dairy and thyroid function, please? I am on a low dose of levoxyl, but have to get off of it for several months each year. I seem to need it more in the winter than in the summer. Of course, the doctor told me I would die if I stopped taking it… far, so good. Have you tried applying iodine to your skin? If your body needs it, it will be absorbed quickly in a day or two; if not, it will take a week to fade away. That was recommended by a doctor.

          • Matina says:

            Dairy is a good source for iodine in small amounts. When I eat it in normal amounts such as a glass of milk, a couple of slices of cheese, etc. it seems to strangely stimulate me a little, but if I over do it and eat a lot of dairy through the day, eat fish or something rich in iodine regularly I tend to get hot flashes, along with sore muscles and joints the following day. I did have a food sensitivity test done and dairy was high on the list. I have had my tsh tested often throughout these past couple of years and the results can go from normal to overactive. In response to the overactive tests I have tried the levothyroxin twice and both times felt well for and better for about two weeks and then quickly became over medicated. Due to this I was referred to a specialist whom said that my thyoid is normal, or it seems to be each time she checks it. But that I am one of the 2 percent population whose thyoid proteins or whatever it is called, they are need to be tested through what they call dialysis and for me that means they get sent to the Mayo Clinic in NY. She says the tsh is fine to test in the regular lab but the t4 and t3 must be tested that way due to my blood. Maybe it has to do the the MTHFR I don’t know. So..I can not take medicine for it and have to careful about over stimulating it. I also have struggled with the adrenal fatigue which effects the thyoid and thus medicating the thyroid when that is an issue can backfire. So it seems to with me. I hope this helps you and I haven’t gone on to much. Might I ask what it is that seems to make you need more medicine at different times and what symptoms do you experience?

          • Susan says:

            Matina, I am replying here because there was no reply button on your response to this post below. Thank you for your insight on thyroid and dairy. I will have to play with that a bit, but find the trigger for hot flashes to be of particular interest.

            I was on levothyroxine for a number of years at 100 micrograms based on TSH levels. In 2006 I became very stiff feeling like my muscles were a straight-jacket. I thought it was from too much thyroid, so I stopped taking it and gradually improved and did not need it for several years. Eventually, I became sluggish and cold and began taking it again at a lower dose and I felt better, but in the winter my face got baggy, my eyes were heavy lidded and my vision was distorted enough that I could only read large print books. Some of the vision problem was the heavy eye lids. If I taped my lids up, I could read just fine. I could read small print during the summer months.

            It seems that when a doctor is pleased with my thyroid numbers, I am about to crash with nervousness and heart palpitations. When I feel that way, I usually skip the thyroid until I start to feel cold and lethargic. This past year, I have taken thyroid at 25 micrograms most of the year going to 50 over the winter and my reading ability stayed the same. In the spring, I started having palpitations and anxiety issues, probably from low Mg. I stopped the thyroid in April after a trip to the ER where they said my thyroid and potassium were fine, they did not know what was wrong with me, but it was not a heart attack. I am beginning to add thyroid back in now at a low level.

            Thank you for your response. It gives me a lot to think about and I will bring it up with my doc when we do more thyroid tests this fall. I had read somewhere that Hashimoto’s can have a bit of the thyroid gland die and release its contents into the blood which causes spikes in the thyroid levels. That may explain some of the ups and downs during the year. Your comment about adrenal fatigue may explain a lot for me also. Thank you! Susan

          • Matina says:

            No reply button on your latest response also. Not being a doctor I need to be careful how I respond to your latest comments. So I will base it on my own past experience. When my tsh numbers were in the 3.60 area I felt rather sluggish, but I have to say there were also other dynamics that may have effected those numbers-one being a fatigued adrenal problem and sluggishness from life dynamics. After being on just 25 mcg. of medicine I began to feel hot flashes, irritability and sleep issues. With in four weeks I was very witchy feeling and insisted he check my tsh levels. At that one time they came back at about 1.34 which was ‘a great number’ for the thyroid he said. Of course probably for the norm that is a great number but for me it obviously was not. So I slowly began to wean because when I tried to skip a day or two I felt what you did-cold and tired. That was probably due to throwing my thyroid off with such a severe drop in medicine. So I weaned for weeks and felt some tiredness and depression for a while-but again I am that way anyway. I eventually got off of them. I occasionally do get puffy eyes but I try to keep track of most of my foods so I can see what the problem is. Maybe for me it is just my adrenal that cause my thyroid to bounce around and get back to normal when the adrenals are stronger. As far as the ER saying your thyroid was normal while on medicine that would make perfect since because the medicine was doing that for you. That is why they check it periodically so they can make sure the medicine is keeping it balance. Going off and on does not seem to me like a very wise thing to do. Maybe you should discuss have a dialysis done while on the medicine and then if the numbers are good on the medicine seek counsel about weaning off of the medicine slowing and monitor your symptoms and then have the same test some in another 6 to 8 weeks to see if the thyroid stabalized itself and is fine or if you really do need to take something to keep it stabalized. I would also suggest you see a naturalpath about adrenal fatigue because if you have that it only complicates thyroid treaments.

          • Lynn_M says:

            For Matina and Susan, in regards to your thyroid issues:

            It is an absurd proposition to try to determine the best dose of thyroid supplementation based on TSH test results. While the TSH test accurately measures the levels of TSH hormone, it does not measure actual thyroid hormones. Furthermore, if antibodies are present, they make the TSH that much more meaningless.

            For an understanding of the effect of exogenous thyroid hormone intake on the interpretation of serum TSH test results, read this introduction to the issue: Then read the full 5 page article at Another good resource for information on why TSH is usually a useless measure, except when values are above the reference range, see

          • Susan says:

            This reply button is odd, but the posts appear in the proper places. I know my stopping thyroid is not advised and I have been well lectured on the subject by multiple medical people, but when I dutifully follow their directions, I end up with problems. I don’t seem to be normal in this regard. I would like to figure out the numbers at which I feel well and energetic and let those be the “good numbers”. My best guess is that MTHFR influences the rate at which I get rid of the medication and that makes it last longer in my system. Since my first symptom of excess thyroid is heart palpitations, it is an attention getter and I need to stop it when I get to that point. I have discussed this with the pharmacist also and he did the “I can’t tell you how to take the medicine, but it sounds like you are on the right track for you” line of thinking. Sometimes, skipping a day or two will help. It is odd, and everyone is different and MTHFR really accentuates the differences. An endocrinologist told me it was safe to play with the doses and timing so long as the TSH stayed below 10…..that was a step up from the “you will die” logic.

            We will see a naturopath this week, so there will be changes coming, I am sure. I talked to the naturopath by phone and got more information about MTHFR from her than I have had from several MDs over a period of months. She was a wealth of information and really knew the subject. I have had the feeling that the MDs did not have a clue about living with the problem or treating it. Thankfully, there is an Indian reservation near us and their health center employs a naturopath…..they are not allowed to practice in the state of NY, a testament to a very active medical lobby.

            From what you have shared about your history, I wonder if you really need thyroid? You are very, very sensitive. It may be that the adrenal fatigue is more of the problem and that may come and go??? It is frustrating to get all of this figured out and understood, and it seems that once we fix something, there is another problem awaiting attention. Good luck with your quest! Susan

          • Matina says:

            Thank you again for more information. I may or may not have thyroid issues-but if I do it may be that as you said due to this MTHFR the medicine is either absorbed poorly or to quickly for me. I am incredibly ultra sensitive to any medicine or supplements. Today I have be totally wiped out-but had haddock for supper and regained my energy a little. I have an appointment with my prescription manager and am going to request the tsh be done again and then the dialysis if that is high. I may have to try a low dose again at different times or days. We will see.
            Good luck to you also

          • Susan says:

            Matina, It may be interesting to keep track of how you are feeling when you have the blood tests done. I really think that super-sensitive people need to find the numbers that correlate to when they feel well and when they feel run down. It does not matter what the normal ranges are, what matters is how YOU feel and what level of support helps you maintain that feeling of well being. I discussed thyroid with a friend who is a veterinarian and she said that for sensitive dogs, she might recommend a low dose of thyroid every other day. My doc crossed her eyes at that suggestion, but the pharmacist thought it was worth trying. Have you considered that taking a small dose of anti-depressants might be what you need to maintain your new norm, rather than getting off them completely? Things change as we age and you may need just a little to stay in your normal range. Finding what works is the key. Best of luck with your appointment. Susan

          • Matina says:

            susan thank you for you sensitive insight. Yes I have considered that I may need anti depressants for the rest of my life actually. The problem is…I can’t seem to get well on just that or find the right one for my chemistry. I would love to be able to just have someone to bounce more thoughts and ideas off of in a more personal way. Would you be interested in sharing emails rather than trying to find the original post every time we reply to a comment?

          • Susan says:

            Matina, you can contact me at

      • Heather says:

        Thank you so much for your reply. You have given me so much information and hope!
        I feel like I am ” white knuckling ” through everything – through life and my body feels so ill.
        I can’t hardly think straight and it seems the older I get, the worse I get. I do not feel like I am living my life at all, just trying to survive it. I am so unhappy and have not felt joy in so long that I forget the feeling. I have no support as far as family or friends – I’m tired of my husband thinking I am lazy when the truth is; I just don’t have the energy, at all. I can not imagine living the rest of my days this way and I KNOW it has everything to do with this MTHFR. I do have stomach issues to the point its hard to eat without feeling nauseated. After I eat even the littlest amount of food, my stomach gets very upset, distended – I’m sure you know what I’m talking about. I have been on all kinds of depression medication none which have worked. I have major anxiety. Was told I have ADD, prescribed adderall which I can’t stand. I am on pain medication for back pain, have headaches about 4 out of 7 days – was put on topamax. My skin looks unhealthy like symptoms of adrenal fatigue. I have had ovarian cancer, have had veins stripped and removed my legs due to DVT, steroid injections in my neck and back…. Just to name a few off the the top of my head.
        I do not smoke or drink so that’s no problem, but I would probably never move without a cup of coffee. I will work on that.
        You have given me a wealth of information and I can not thank you enough!
        I am in America, and the doctors in my state of Ohio do not know what is going with this.

        Some of the things you mentioned I have never heard of before so I will have to look into those and see what I can come up with. I picked up some fresh lemons today. I am trying to find the sublingual Methylcobalamin 1MG and Amazon keeps coming up on searches. Im wondering if I can find something local ? Not sure. I just want to be sure I am getting the right things that you recommended/mentioned.
        I do not feel like you are preaching – at all. You are heaven sent ! The information you have given me and others are life saving. I am in despair, not feeling much hope until I heard from you and now I have a place to start. I hope we can stay connected in some way. I dont know how to exchange information (email, facebook ) on here without it being so public.

        I see the other girls here are also benefiting from your post and I am sure I speak for all who read it how truly grateful we all are.
        I am so happy for you that you are feeling so much better and are on a path of wellness 🙂
        I think that is wonderful ! Also, wonderful that you have a doctor there willing to learn and help her patients. That is a real blessing.
        Thank you so very much, Michelle. Thank you.

      • Paula says:


        Thank you for such an informative response on the Compound Heterozygous. I, too, am Compound Heterozygous and am only beginning my journey to a much healthier life. Please take a look at my story in which I wrote on January 29, 2015, on this site. I would like to know your opinion on the package food deal. Now, there are so many “all natural, gluten free” products on the market – such as snacks, cereal, granola, pastas, etc…however; all packaged. Are those okay to consume and do you think they have any nutritional value or are they just empty calories? Also, Im studying the Paleo Diet quite extensively, and am a bit confused because I have Vitiligo, an autoimmune disease. There is a different “Paleo” approach if you have an autoimmune disease abbreviated AIP. Do you think I should try to follow a diet (Paleo, Vegetarian, Vegan, AIP), or just keep it simple with an all natural diet? Thank you in advanced!!

      • Paula says:

        Thank you for such an informative response on the Compound Heterozygous. I, too, am Compound Heterozygous and am only beginning my journey to a much healthier life. Please take a look at my story in which I wrote on January 29, 2015, on this site. I would like to know your opinion on the package food deal. Now, there are so many “all natural, gluten free” products on the market – such as snacks, cereal, granola, pastas, etc…however; all packaged. Are those okay to consume and do you think they have any nutritional value or are they just empty calories? Also, Im studying the Paleo Diet quite extensively, and am a bit confused because I have Vitiligo, an autoimmune disease. There is a different “Paleo” approach if you have an autoimmune disease abbreviated AIP. Do you think I should try to follow a diet (Paleo, Vegetarian, Vegan, AIP), or just keep it simple with an all natural diet? Thank you in advanced!!

  • Elizabeth says:


    What valuable knowledge (gained the long, hard way!) you shared. Thank you. I’m especially grateful for the reminder of lemon water every day, but you shared so much good information for Heather–and all of us.


  • Bridget says:

    I was told by a hematologist when first diagnosed with 2 copies of A1298C that I could not take synthetic hormones as those in birth control. That is not a problem for me as I have had a tubal ligation and endometrial oblation. I have a swollen thyroid as well as lymph nodes in my jaw line and under arms along with elevated TSH and LDL cholesterol (when I was younger my HDL was higher than my LDL but now it is reversed in a major way). My cortisol, T3 and T4, and antibodies for Hashimoto’s disease (this autoimmune disease runs in my family) levels are being tested as we speak. My question is will it be safe to take a medicine like Levothroxin for thyroid hormone replacement therapy if the expected diagnosis of hypothyroidism is confirmed or should my doc consider a blood thinner in conjunction to be safe?

  • Gabi says:

    Dr. Ben,
    First, thank you for all you do and have taught us. Like so many others I am finding hope for the first time in many years through your research and protocol. My question is:

    I am Homozygous A1298C. I occasionally take Tramadol and xanax… recently (1 month and 1/2 ago) my neuro put me on Lyrica 150mg a day. I have been experiencing all of the symptoms of Serotonin Syndrome. Is my self diagnosis completely off or could this be? Right now I am on my 2nd day of methylCobalamin and your protocol (lifestyle, etc) Do you have any suggestions for getting my serotonin down any faster? I am miserable and cannot imagine spending another day like this. I had been having myoclonus, but this week I had a big seizure which was scary to say the least. I am a prisoner to my bed and doctors here continue to guess and refer me out because they don’t know what could be causing all of this. I just ran across Serotonin Syndrome and after listening to your video (a few times) it makes sense to me that this could very possibly be what I’m experiencing. Thank you in advance.


  • Ruth says:

    So what is your suggested treatment for compound heterozygous individuals? I have many of the symptoms you described above. There are not many doctors in my area that even know what MTHFR mutation is, let alone know how to treat it.

    • Heather says:

      I have the same… Compound heterozygous.
      Also, NO doctors and the ones I have seen are not willing to take the time to learn in order to help me. I feel pretty much all alone in this. I was tested twice by two different doctors for MTHFR but then they have no idea what to do with it.
      I have so many of the problems and I wonder what my quality of life would be like if I could get the proper treatment.

    • Susan says:

      Ruth and Heather, I just found out that I am compound heterozygous also. I ran my 23andMe results through Genetic Genie which was fine for the methyl cycle. Needing more info, and not having a clue about what I was doing, I then ran it through which gave a meaningful paragraph to each mutation, but there was conflicting info on one mutation. That bothered me, so seeking a third opinion, I ran it through There I got enough information to change my life! If you take a health survey, you get the methylation and detox analysis for free and it tells what to take and what to avoid. I paid for the full report and now have a much better understanding of this very complex topic and myself. Taking advice from a computer almost makes more sense than taking it from an ill-informed physician. Frankly, with so many mutations, one needs a computer to sort out the “take this and avoid that list”….. and some supplements made it on both lists, which probably explains why I have felt odd for so long. Right now, I feel that the 23andMe and Nutrahacker fees have been the best health dollars I have ever spent. Time will tell how useful the information is, but knowing that I have a problem in an area will help me to do what needs to be done. I seem to need to understand WHY I have to do things.

      • Steve Thompson says:

        Hi Susan. The information that the computer returns originally came from those same ill-informed physicians. But on a more serious note, prescribing one course of action for each single gene variant is not really useful. We are a collection of 30,000 genes, including a balance between some two dozen genes/enzymes related to methylation. Some pull in one direction while others pull in other directions. We should treat the person, symptoms and reactions to supplements, rather than the genes.

        • Susan says:

          Thank you Steve. Yes, we need to treat the person, not the genes. Right now, I am assimilating the information and hope to get a workable list of what I need to take, understanding why I need it. It is helpful to have the genetic information to understand that there is a problem in certain areas and how the mutation changes the expected function. Once I knew that I had a gene for Celiac Disease, it was easy to give up gluten, knowing it was a poison to my body. The Nutrahacker information brought up some supplements that I had considered taking and now have a better idea of why I might need them. It also brought up questions that need to be asked about other supplements, methyl B12 in particular. It is interesting to have so many mutations that are in conflict with one another. No wonder my doctors have not been able to figure out what to do with me. At least the results explain the complexity and point toward some answers.

  • Heather says:

    Susan, Steve,
    I would much rather be collaborating with a doctor, by all means. If I didn’t feel like this was playing a role with so much illness and dysfunction in my life, I would leave it alone. I feel its worth the investigation. I agree with you Mr. Steve Thompson. I believe that is the DO oath.
    I think you have to very careful if you decide to self treat. I read on the MTHFR Facebook support page – an article about how careful you have to be… You can really screw yourself up and cause a lot of problems within your cells. The only thing I am doing is taking digestive enzymes and vitamin b12 sublingual 1mg. Hopefully everything I have read about those two things, I am safe. I pray.
    I will continue to look for a doctor. Keep praying for one to come my way.

  • Colleen says:

    Hello. Thanks for your great article…it was informative and easy to understand. I was tested and have the Homozygous A1298C MTHFR mutation. The C677T was negative. My Mom has Parkinson’s, which is on your list of posible conditions associated with the Homozygous A1298C MTHFR mutation. What natural supplements and or dietary recommendations do you have to help prevent/lessen me from ending up with Parkinson’s? I do take Quercetin, Acetyl-L-Carnitine, and R-Lipoic Acid as I heard these help. Thank you for your help.

  • Michelle says:

    I have recently been diagnosed with the compound heterogygous. I am struggling with getting it treated. I purchased your supplement, HomocysteX. One capsule seemed too much to start with. Then my doctor gave me Deplin 15 mg. Way too much! Many side effects. With advice from someone else, I started back with the HomocysteX again but opened the capsule and took 1/4 of it. Then went up to 1/2 a few days later. I felt terrific!!! My hair, skin and mood were great! I stayed with 1/2 but after a few days I noticed my hair super dry and brittle again. It breaks off and is thinning out. My mood is still good and I have had energy again but I have also been light headed and some stomach cramping with diarrhea. I don’t know which way to go now. Do I have too much or not enough? I am also concerned with a history of IBS issues, maybe I have leaky gut and am not absorbing all of it. Am I trying to detoxify but not eliminating the toxins? I am taking a new multivitamin with folate instead of folic acid, theracummin to help with any inflammation, Omega 3’s, probiotics and I have Niacin if needed. I am also on perscribed medications from before this diagnosis. Vyvanse and Fluoxetine.I have also been on a gluten and dairy free diet for a few weeks. I am eating healthy. I do have a lot of stress in my life. Maybe that is effecting things. I teach autistic kids. I love my job but it can be stressful. Do you have any suggestions for me?

  • Faigi says:

    I live in Israel where they don’t test for a 1289c. One daughter in USA has one copy, so does my husband’s niece. So we know where it comes from, at least. Another daughter displays many symptoms and my question is: can she take the folate without being tested?

  • Connie says:

    My husband has a mutation MTHFR 1298C. Just diagnosed with Dementia Lewy Body with parkinsonian symptoms. Dr. says no treatment for DLB. Researching possible ways to help him. What type of folic acid is recommended for A1298C mutation and dosage by IV therapy. His cysteine level showed normal. Is that the same as homocysteine. His folate level showed normal. Is that the same as folic acid. He is waisting away. Severe cognitive decline. Only 65.

  • Hi Ben. You listed “possible symptoms, signs and conditions” associated with A1298C MTHFR mutations. Can you tell us how you developed these lists and how you may expand them? You indicated that you would “add to it as I think of more (or you inform me of ones that I have omitted).”

    Are you crowd-sourcing these lists or are they based on associations found in published literature?

  • Elizabeth says:

    As a longtime and very appreciative follower of Dr. Lynch’s work, I’ve seen this site attract many readers, and the poor doc would never be able to pursue research, help patients, develop high-quality supplements, travel around giving talks and workshops, and also promptly answer all the questions posed–and sometimes people get impatient or even a little snarky toward him because of it, or for other reasons. But there are clearly many very kind people who come here too who are very desperate for answers and help, and it’s been heartening to see the careful, informed sharing of knowledge in the spirit of broad patient empowerment and goodwill.

    I can’t to speak for him of course but have heard him in a number of talks and interviews and gather that much of Dr. Lynch’s findings/associations are from his past (and present?) clinical work, work with other docs engaged in the same research and clinical practice, and medical journals/research, among other sources.

  • Joseph says:

    Hi. My daughter is A1298c homozygous and has a mutation on CACNA1A which is causing Calcium Ion Chanel issues (effect -> Ataxia, Speech issues) in Purkinje Cells.
    Is it possible that 1298c is also affecting this? If yes what supplemental would be usefull?

  • Margaret says:

    Dr. Ben, I am so thoroughly confused. I have results from 23andme, which show I am compound heterogeneous. I am not sure what B vitamin to take or not to take. I understand no folic acid; however, a PA told me to take Adenoslylcobalamin, but do I need something else?

    Also, my PA believes I may a chronic infection. Would the MTHFR mutation manifest itself as such as treatment has not been effective?

    • Dr Lynch says:

      Margaret – chronic infection has many causes – not just due to MTHFR. It may contribute. Adenosylcobalamin is useful but methylcobalamin is needed for many people – especially those with low methylation. Those with MTHFR may have lower methylation – depends on many factors. Chronic infections are definitely something to evaluate.

  • Susie says:

    Dr. Lynch, my son is compound hetero. His autism doctor just took him off methyl donors and put him on hydroxylb12 and no folate. What can I do for folate?

  • Tammy Merrill says:

    I just got tested and still dont understand my results. My MTHFR C677T was in the optimal range but my MTHFR A1298C WAS IN THE HIGH risk range. The doc prescribed me
    Flobee300mg. Can you tell

    • Dr Lynch says:

      Tammy – that doesn’t make sense. MTHFR is a genetic polymorphism (SNP). There is no normal range. Folbee (not Flobee) is not the ideal way to support MTHFR because of the lower quality forms of nutrients. Folbee uses folic acid – and that is NOT what should be taken. I prefer nutrients that are: methylfolate, methylcobalamin, adenosylcobalamin, pyridoxal-5-phosphate and TMG. These support methylation much better than Folbee. I’ve designed HomocysteX and HomocysteX Plus which contain these forms of nutrients.

  • Carol Sweeney says:

    Am fascinated by all the research on methylation since being tested by a local doctor who believes in this subject matter. I tested negative for C677T and positive for one copy of A1298C. Quest Diagnostics did the lab work, but only gave a technical explanation of the concept of methylation. I assume that I must not have the more difficult combinations that others have reported. Yet I have serious cardiovascular disease somewhere in the DNA, with 10 cardiac stents currently. I was a runner for years before discovering that both coronary arteries were blocked 75 and 90 percent respectively.
    In addition, many of the symptoms/conditions that can occur for methylation I have had for years, blaming it on other reasons. I am not saying that I think methylation is now the cause, but do wonder if only one positive copy of A1298C can, in some individuals like myself, some serious health problems that apparently I have had since early childhood. All speculation on my part, but I wonder….

    • Susan says:

      Carol, there is a great deal to read on several MTHFR sites and MTHFR is only part of the methylation problem. May I suggest that you get a test kit from 23andMe to get a more complete genetic picture. You will probably find the answers to your cardiovascular history there. After you get the raw data from 23&Me, you need to run it through another genetic site to get useful information about health related topics. Some such sites are:,, and You will find that MTHFR is only one part of the puzzle. Best of luck to you! susan

  • Momof2boys says:

    I just found out today that I tested POSITIVE for 1 copy of C677T mutation 1 copy of A1298C MTHFR genes. I’ve had thyroid issues since birth of 1st child yrs ago. When pregnant I had pre-eclampsia & HBP. Prior i was healthy. Now thyroid is going haywire & TSH came back today 7.61. What does all this mean; primarily thecompbined MTHFR genes?

  • Sheilla says:

    I just found out I have the A1298C mutation and not the C677T. I’ve been unsuccessfully trying to conceive for the last 3 years. My doctor put me on Optivite and 1mg methyl folate. But instead,I decided to take the optimal prenatal from seeking health. I also have insulin resistance and was started on 500 mg Metformin,working up to 1500 mg a day. I have read that Metformin can increase homocysteine. Is it the optimal prenatal enough for my supplement needs? I ve been doing okay with my old multivitamin prior to the diagnosis but I did have estrogen dominance and psm so she put me on Optivite and progesterone.
    This past month, I’ve been sick with cough in combination with hives /nasal allergies, which turned into cold with allergies. I’m not sure if there is a corollation to the mutation. I have had worse seasonal allergies these past 2 years.and I have read that high histamine is a sign of under methylation. The ton of information you come across is confusing and I’m not sure if I understand them right. Any useful advice is appreciated.

  • Sheilla says:

    I also want to add that I did a one day cleanse and had a flu shot before the onset of my cough. So I wonder too if that’s what caused the symptoms. But I am interested to know if mthfr mutation can cause allergy symptoms of runny nose, or hives.

  • Rick says:

    Hi dr. Ben,
    Thank you for all you do for the general public, people like you are a blessing.
    I was diagnosed homozygous a1298c. Battled depression and ocd for 9 years, I’m 43.
    Tried many antidepressants that don’t seem to help much.
    My psychiatrist has me on 45 mg of Deplin (I know it’s a lot). Still on an AD also.
    I do have more energy but trouble sleeping and the obsessive thoughts are still with me every day.
    What else can I do to improve my health?

  • Jennifer says:

    My oldest child was born with a neural tube defect. I insisted on being tested for MTHFR mutations before trying to conceive another child and I was told I have one copy of A1298C which was not a factor in my child’s neural tube defect. I was told to follow the normal recommendation for mom’s of children with NTDs of taking 4mg of folic acid before trying to conceive and during pregnancy.

    Should I take methyl folate instead? Should I take 4mg of it? Do I need an additional supplement to balance the large dose of folate? I am not finding any good information on what my body most needs to give a fetus the best chance at avoiding NTDs and its so vitally important I get it right.

    Any advice or links to relevant articles would be very much appreciated. The genetic counselor I saw previously didn’t seem knowledgable about my need for folic acid/folate and pretty much dismissed me by saying the mutation was not a factor.

    • Susan says:

      Hi Jennifer,
      From what I have read, folic acid is the wrong source of folate for anyone with MTHFR mutations. Folic acid blocks the receptors so folate is actually unavailable to the body tissues even though the level in the blood appears to be high. It seems that getting this well understood and treated before becoming pregnant is vitally important. My impression is that naturopaths are best suited to understanding the needed treatment for MTHFR, so finding a good naturopath may be your next best step. Having a methylation panel to identify any other mutations is also important. MTHFR is often only part of the picture and you need to treat the whole. Best wishes to you, Susan

  • Beth says:

    Dr. Lynch,
    I am hetero for 1298c, as is my husband. We have had multiple miscarriages. I started seeing a doc who is knowledgable about MTHFR. She has me on 15mg of L-methylfolate and also b12 and b6 (all bioavailable forms). Does this seem like a high dosage? Is this dosgae too high to continue if I were to become pregnant again?
    Thank you for all you do.

  • Tierra says:

    I have just stumbled upon your website and find it very interesting.
    My nine year old daughter has mastocytosis. I have just found out that she is also homozygous for MTHFR A1298C, MTRR A66G, and CBS A360A. What I am gleening from my reading is that she could benefit with supplementation with methylfolate and methylcobalamin, however I cannot find any dosage charts for kids! She is 90 pounds so would appreciate any guidance you might have.
    Many thanks,

    • Colleen says:

      Tierra, go to the Life Extension web site and see if you can find anything there on dosage for methylfolate and methylcobalamin. I take both (I have 2 copies of A1298C). If you can’t find it there then contact them, they are very helpful. Hope this helps. http:/

  • Colleen says:

    Tierra, go to the Life Extension web site and see if you can find anything there on dosage for methylfolate and methylcobalamin. I take both (I have 2 copies of A1298C). If you can’t find it there then contact them, they are very helpful. Hope this helps. http:/

  • Amy says:

    Hey Dr. Ben, I have tried to look at the impact of being Homozygous for both C677T and A1298C and have found no literature on having both homozygous mutations. What are the implications? Anything different that I need to add to my already huge pile of pills b/c of this double whammy.


    • Lynn_M says:


      The research I’ve read that looked at the incidence of various MTHFR mutations in their research subjects found no subjects with both homozygous mutations (4 faulty MTHFR SNPs) and a very limited number of subjects that were a combination of homozygous and heterozygous (3 faulty MTHFR SNPs).

      The researchers seemed to think that having both homozygous mutations was so lethal that the fetus could not survive. If you have both homozygous mutations, you are a very rare individual.

      • Amy says:

        Yes, so I have heard how rare this is. Not sure what this means for me. I have been on a successful supplement regimen but not sure what else to consider for preventive care.

        Any suggestions are welcome.

        • Lynn_M says:

          Seems like it will be critical for you to live a very clean lifestyle with minimal stress, minimal toxic exposure, and an exemplary diet.

          Since you are such a rare bird, I imagine some MTHFR researchers might be interested in you. Perhaps you could find some of those research articles where they couldn’t find any living subjects with a compound homozygous condition and write to the authors. I don’t know if they would have any helpful advice, but maybe at least they would be interested in you as a subject, or give you leads to someone that could be more helpful.

      • Argyros says:

        Hey Lynn, do you have any knowledge to how common it is with the combination of homozygous A1298C and 3 (P39P) ?

        According to Yasko, P39P is expected to be even more detrimental to health than C677T – since it’s more rare and her own research/experience, which I haven’t found any other sources to yet. I do find it not as likely though, unless the combination of the ‘1298’ and ‘3’ effects are not as bad in combination as 1298 and 677..

        I’m currently diagnosed with ME/CFS, and also uncovered high levels of chronic Mercury which I’m currently being treated for – which of course raising methylation and doing chelation (DMSA & ALA) are primary. Don’t know if the mercury is due to low methylation and 1298/3-issues, or just incidental, but I do tend to believe it’s at least somewhat causal, together with other SNPs, since I’m more sick and toxified than others in my environment – and I’ve been increasingly eating healthy paleo foods the last 10 years – after getting food intolerances and “crohn’s”..

        • Lynn_M says:

          I heard Dr. Nancy Mulligan say maybe a year ago that Dr. Yasko thought MTHFR 03 P39P had a worse impact than C677T. I am homozygous A1298C and heterozygous P39P, so I tried to find out more about P39P, but was unsuccessful at that time. There doesn’t seem to be much published about any MTHFR snps other than A1298C and C677T. So I can’t help you with that question.

          I think you’re correct in thinking your homozygous A1298C and 03 P39P are contributing factors to your high levels of mercury. You might check out the status of your glutathione uptake genes too – GSTM1 and GSTP1.


          • Argyros says:

            Thanks for replying Lynn.

            Yea, it was 1-2 years ago I first read about (and heard in seminar recording) Yasko’s thought that P39P i more problematic than C677T, and the only other source was Mulligan echoing that. Recently found P39P is probably also called C116T, but not a lot of pubmed research or other popping up for that either. I guess it might just be too rare to being researched much yet.

            Will let you know if I come by any more information on it.

            My GSTM1 and GSTP1 are both fine (wildtype). I do have SOD2 homozygous mutations though (rs2758331 & rs4880), so probably something could be done to help out there as well – let’s to figure out 😐

  • lane says:

    I found this site about three weeks ago after three years of internet searching for issues that began for me at that time after taking a course of antibiotics (cipro). Within a day of completing the dose I began to have severe itching all over my body as well as hives and dermatographism. Over the past three years I’ve visited numerous western doctors as well as Chinese medicine acupuncturists. I’ve found some relief using antihistamines but still the problem persists and in some ways the reactions have gotten worse in that now my lips tingle and my face flushes. Awesome to go in public sometimes. 😉

    Through my visits with MDs they found I had low platelets and elevated bilirubin…long story short no one could figure out why the low platelets and was told just to repeat the labs every six months. I did find out though that I have Gilberts syndrome (hence the elevated bilirubin). And since I’m putting it all out there not sure if it matters but during my first pregnancy with twins I developed HELLP syndrome and had an emergency C-section to save us all. That’s a bit about my medical background. When I found your site and I devoured it and saw similarities in people’s posts so when I went in coincidentally for my annual I asked my ob/gyn if she could pull blood for it. I remember saying the initials MTHFR and she’d heard of it and I was so excited I could have cried. Sure enough got the call today and I’m compound heterozygous (one copy of A1298C and one copy of C677T) My doctor recommended I start on Metanex (?) and I also had blood taken for a Spectracell micronutrient test. Plus I guess I’ll just throw it all out there…my A1C came back at 5.8 (prediabetic?) and she suggested metformin to see if we can get that back down below “normal” as a preventative (my father is a type 2 diabetic) I would like to add that I eat healthy, exercise regularly (training for a marathon right now) so its not my lifestyle that’s the root of this. I know its my genes (unless maybe high mileage running can affect that number?)
    All this to say I am happy to have a piece of my medical puzzle especially for my kids sake. One son has asthma, another has horrible eczema, the last has stomach issues, think IBS. Basically an amalgam of me. I can deal with whatever issues I have but if possible I would like to save my kids from any of my medical issues and have them be as healthy as possible. Dr. Ben or anyone that this sounds familiar to please please say something as to what way to go now that I know i’m a double mutant. Is the metanex all I need to do to “fix” myself then test the kids and go from there?
    one last thought…my sister has rheumatoid arthritis, fibromyalgia, and her son is autistic…I KNOW this is all related, it has to be…will urge them to get tested.

    • Lynn_M says:

      Lane,! is about fluoroquinolone antibiotics causing permanent nerve damage. Sounds like you have a challenging after effect.

      I have read about a genetic susceptibility to fluoroquinolone, and the article I saw gave a specific gene that 23andMe included in their testing. I can’t find anything about it now, so I can’t give you the gene name, but if you’re interested, it might be worth searching for.

      The problem I see with Metanx is that methylcobalamin in it may not be absorbed very well because you’d be taking it orally. There seems to be some controversy over how much mB12 is absorbed when taken orally, with many people saying only 1% gets absorbed, and more conventional thinkers saying it’s fine to take it orally. If it was me, I would take additional mB12 in either sublingual, injectable, or transdermal B12 oil forms.

      Your doctor may have heard of MTHFR, but apparently she doesn’t know that metformin depletes B12. If it was me, I’d want to do more investigation of why the A1C was high before taking a drug that will compound the difficulties of adequate methylation. Maybe there is something about your diet that is unknowingly contributing to a high A1C – like allergy or food intolerance, or the wrong diet for your metabolic type. For starters, you should be avoiding gluten. There are a lot of books available about how to cure diabetes naturally.

      Fixing yourself is much more involved than taking Metanx. It sounds like your lifestyle is already excellent, but stress might be an factor for you – especially with the medical problems your children have, and your post-Cipro problems. I agree with Susan that a 23andMe test might be a good place to start, to better identify your vulnerabilities.

  • Susan says:

    Iane, may I suggest that you get more testing done before you start treating your problem? There is much more to this than just MTHFR and the other SNPs are often more important. Doing the 23andMe test for $99 then getting it interpreted at another site will give you a boatload of information for under $200. There are often conflicting recommendations that need to be balanced, like a SNP that needs methyl donors and another that avoids them. I had one that said to avoid metformin. From what you have shared, it sounds like your family has a lot of methylation issues. You might find Dr Amy Yasko’s site of interest for methylation and autism issues. She has several books available for download that will help you see the importance of the other SNPs beyond MTHFR. And YES, it is all related! Good luck!

  • Tammy Dee says:

    Hello, I have recently discovered that I am MTHFR – Compound Heterozygous. My question is – have there been any studies that show a correlation with Degenerative Disc Disease ? I have very severe disc disease – involving pretty much my whole spine. My cervical spine is very severe with spinal cord compression and multiple osteophyte formation (bone spurs). I am only 50 yrs old – I swim and hike/walk despite the pain and eat very healthy- I do not take supplements. I am now requiring a second surgery on my neck where they are going to have to fuse me from C1 to C6 – a very risky and frightening surgery. Nobody else in my family have these problems. I have no full blooded brothers or sisters – only half. Is it possible that this mutation could have caused these issues ? Thank you in advance for your response.

  • Caroline says:

    Hi everyone I have had a lot of physical and emotional trauma it all started when i had my stillbirth in 2012. Found out i had blood clotting disorders strangely i tested negative to any MTHFR gene mutations so i started takign clexane i had a very bad reaction so was told to take aspirin. Fast forward to now after all teh trauma i found out through 23 and me i have a genetic mutation that doesn’t metabolise NSAIDS so 2 weeks after having baby i started vomitign up blood yes i had two bleeding duodenum ulcers if only i did the 23 and me test a few years ago, i should be dead but i survived. Went and saw a functional lyme doc he did the MTHFR test and i am homozyhous 1298c. I have all the symptoms listed here but i am also COMT++ which complicates it a little, i have high ammonia and low hymocysteine i have tried L-Arginine but that makes me worse could be from the Lyme due to the COMT++ i am sensitive to methyl donors coffee makes me jittery i don’t drink it Coq10 makes me wired so i am going to stop taking it but continue with teh activated B’s and the methyl guard i am in sydney australia so tomorrow i will call and see a professional on Methylation because i feel it’s the key to my long term health. I suspect i contracted Lyme from all teh blood transfusions i had. If anyone had any advice i would really appreciate it. I was originally diagnosed with fibromyalgia but then we discovered the lyme

  • Elizabeth says:

    Dr. Lynch..
    Or someone …….. Can answer this question?

    I am compound heterozygote – with a long list of medical and mental problems such as anxiety, depression, etc. I have looked tirelessly for a doctor… NO help there.
    Recently my hair has been falling out. I am running out of time here and I NEED a doctor and with my son being newly tested, I have to find one to take care of him.
    I’m worried about him and long term knowledge and care.

    Does anyone know if hematologist work with this ? I have tried gynecologist, primary doctors, endocrinologists, dermatologist, psychologist, psychiatrist, neurologist and no help. I do not want my son to suffer the way I have been so I need to find somebody for him to give him awareness.

    I’ve read mixed things about being compound hetero ( me) and compound
    homozygous ( my son)
    My sons blood work just came back and it actually says; Two copies of MTHFR c.665>T

    So my son is compound homozygous.
    I sure hope that’s not bad, but I am reading ALL kinds of mixed information.
    Can anyone clear this up for me ?
    Is the c.665 the same as the c.677 ?

    Also, does anyone know of a doctor near , In or around cincinnati Ohio area ? ( do not need pediatrics per say , anyone willing to help , please )

    Thank you!

    • Susan says:

      Elizabeth, You may want to look for a naturopath or a doctor of integrative or functional medicine. Some MTHFR websites have lists of practitioners who specialize in MTHFR, also some chiropractors . I am trying a nutritional therapist who has MTHFR herself. Most medical doctors do not have the nutrition background that we need. Good luck in your search.

      • Sharon says:


        May I ask the location of the nutritional therapist you are seeing?


        • Susan says:

          Burlington VT

          She has done everything by phone so far. She may be willing to consult by phone and email????? Some people have also found MTHFR docs who do that and have had good luck with them.

  • Serena Arbuthnot says:


    I have been following your website for years. I found that I am Heterozygous for Factor V Leiden (R506Q) and Homozygous for C677T with normal A1298C. I have had 6 miscarriages since having my two boys earlier in life.

    My son’s results came back as Heterozygous for Factor V Leiden (R506Q) and Compound Heterozygous for one copy each of C677T and A1298C. (I assume one copy from me (C677T) and one copy from Dad? (A1298C)

    Shayne was born without his left main feeder artery and had to have open heart surgery at 3 months old to make a new artery out of the pericardium that surrounds the heart.

    Shayne’s symptoms are extreme fatigue, headaches, low testosterone, muscle cramps, and major ADD.

    I need help to get him on track and feeling better with diet and exercise. We are now all taking VitaMed MD plus Rx which has been great because it is only 5 dollars per month and comes directly to the house. We are also taking a baby aspirin a day.

    My father was just tested and we are waiting for the results. His homocystine levels came back as 15.6 which is high.

    Please give me any advise as to how to help our family.

  • Carrie says:

    Dr B. I am positive for 2 copies of the a1298C.
    Results ” is homozygous for th e a1298c and negative for the c677t…..

    What does 2 copies mean? And what should I be doing????

  • Jodi Goering says:

    I have hetro A1298C mutation. My integrative doctor is having me take O.N.E. Multivitamin with metafolin L-5 MTHF, probiotics and rhodiola. I had a healthy baby boy in February 2012, a miscarriage in December 2013, I have had symptoms for years of fatigue, mood swings, irritability, insomnia, stressed, depression, anxiety, breast cancer 2010, my mother, both grandmothers breast cancer ( I have tested negative for the BRCA 1 & 2 ) My vitamin D levels have measured in the teens for a few years now most recent test 7/25/14 was 21, vitamin B12 is 362 and vitamin A is 36, thyroid T4 is 1.07, iron 40, TIBC 321 and the iron % saturation 12. Is there other blood work I should have done?

  • Aly says:

    I was diagnosed with this mutation in July 2014. I’ve had 2 miscarriages. They put me on one 325mg asprin a day and have said nothing else about it. Is there vitamin supplements I should be taking as well? Also, I’ve been on antidepressants for years. Is depression associated with this mutation? I need info!

    • Jodi says:

      Have you seen an integrative doctor? I would if I were you and seeking supplements – I was on anti depressants every one you can think of as well as anti anxiety meds. I now see an integrative health doctor. Good luck! Jodi

  • Sep says:

    Hi Dr Ben,
    My was diagnosed with infantile spasm when she was 8 months old and she almost failed all frontline meds. Now after 8 months we have just found out that she positive for A1298C hetero. We have also done kryptopyrrole test and it wasn’t normal either. We had pest control one month before clinical symptoms. Do you think these are related? My baby has developmental delay too. Any recommendation?
    Thank you so much.

  • Rhona says:

    Dr. Ben,
    Lab results show me as Homozygous for A1298CC and normal for C677T. I could go on for some time about all my health issues. But I am concerned for my 38 year old son.
    He has not been tested, but wouldn’t it be likely that he would have some of the same mutation as myself? He is being treated with Xeralto for blood clots that traveled to his lungs following an injury to his knee.
    I would like to ask if he is likely a candidate to take the methylated folic acid and would that be safe while taking Xeralto?
    Some of his other problems include the following:
    Hand tremors (since childhood)
    Disturbed Vision
    Irregular heartbeat

    Thank you for your time!

  • Joni Friberg says:

    I’m confused. This article is about A1298C MTHFR, which I have. I’m currently going through my third miscarriage, with no other explanation of why from the doctors. I truly believe it has to do with MTHFR.

    But you state, in the 3rd to last paragraph says “Again, a single copy of A1298C MTHFR does not appear to be harmful unless it is combined with the C677T MTHFR snp – known as compound heterozygous.”

    Should I be concerned with my single copy of A1298C or not?

    • Dr Lynch says:

      Joni –

      I would not be concerned about a single MTHFR A1298C SNP. I may have some information that is contradictory as my education increases as does my clinical experience. I recommend further genetic testing through 23andMe or your doctor. Factor V Leiden is very important to evaluate.

      • Joni Friberg says:

        Lab results for Factor V Leiden is negative.

        I am now going through my 3rd miscarriage. Any other ideas?

        • Heather says:

          Hi Joni,
          Have you looked into the PCOS ?
          Just a thought.

          I don’t want to say to much about it as far as medical facts because I’m going off memory but while trying to find a dr for MTHFR I found a doctor who had done research on MTHFR so I went and saw him. Turned out he didn’t know to much, if any about MTHFR but treats PCOS .. Helped many women with pregnancy. While waiting in the waiting area, I read letter after letter after letter.. women had written him thanking him for the treatment of PCOS which in turn stopped the miscarriages and infertility issues they were having.
          Just a suggestion. Don’t know if you have explored this route but thought I’d throw it out there just in case.
          Hope it helps you.

  • laura says:

    I have homogeneous A1298C mutuation. I’ve been experiencing severe hypoglycemia symptoms. Does anyone know if there is a correlation? My doctors can not find anything.

  • Nan says:

    Hello Dr Ben,

    My son is 28 months and was dx with autism. After being on gfcfsf diet he has no sensory or autistic issues exept being nonverbal and some minor GI issues which we are treating. We started him on mb12 injections and are seeing overall focus but not speech. He lost speech after his 15 month mmr.

    Here are the 23and me results-
    1. MTHFR a1298c +/-
    2. COMT v158m and h62h +/-
    3. VDR taq and bsm +/-
    4. MTRR a66g and a664a +/-
    5. BHMT 02 and 08 +\-
    6. CBS a360a and c699t +/-
    I have been very concerned about his speech. He gains some words but is never consistent. Please provide your suggestions Dr Ben. Will methyl folate or dealing help with speech on top of methylb12?
    Thank you

    • Dr Lynch says:

      Nan –

      I would consider putting some Optimal Creatine in his bottle about 1 scoop – and a little of Optimal Electrolyte (1/4 scoop) and can do both a couple times a day – spread out by about 4 hours or so.

      Creatine is known to be deficient in those with autism and speech delay.

      Make sure he drinks adequate water to stay hydrated as creatine absorbs a lot of water.

      His SNPs do not look that bad to me – the ones you included.

      Need to check his GAMT, PEMT, PON1, BCMO1 and Methylation status.

      Check those genes by running the MTHFR Support report

      Have your doctor order the Methylation Profile by Doctors Data. If they cannot or won’t, you may order it here: Methylation Profile by Doctors Data.

  • Sophie says:

    Hello Dr. Ben,

    just read about the boy above and maybe you could give us also some advice
    Our daughter is 5 years old and has an ataxia and speech delay.
    The speech is the major topic because it’s very difficult for other to understand her and
    she cannot speak long sentences just 2-4 words and she says not “I…” but her “name” instead of “I…”.
    Could you see a link to the sympthoms based on below results?

    The MTHFRSupport Results are:
    ACE Del16 +/+
    ADD1 G460W +/+
    MAO A R297R +/+
    MTHFR A1298C +/+
    MTHFR rs1476413 +/+
    MTHFR rs4846049 +/+

    In Addition we got following Organix Comprehensive profile results
    High a-Ketoglurate 40.3 (Citric acid cycle)
    High Succinate 38.8 (ATP production)
    High a-Keto-ß-Methylvalerate 0.45 (Impaired Isoleucine metabolism)
    High ß-hydroxyisovalerate14.9 (Impaired Isoleucine metabolism)
    High 8-Hydroxy-2-deoxyguanosine 8.1 (DNA oxidation product)’
    Very High Glucarate 18.2 (Hepatic Phase 1 and 2 detox)
    High Pyroglutamate 112 (Glutathione wasting)
    Normal Methylmalonate 1
    Normal Forminioglutamate 1.9

    and +/- for
    AGT M235T/C4072T
    CBS A13637G
    CBS A360A
    CBS C19150T
    CBS C699T
    COMT H62H
    COMT V158M
    DAO rs3741775
    GAD1 rs12185692
    GAD1 rs3828275
    GAD1 rs701492
    GIF (TCN3)
    MTHFD1 C105T
    MTHFD1 G1958A
    MTHFR 03 P39P
    MTHFR A1572G
    MTHFR G1793A (R594Q)
    MTHFR rs3737964, rs4846048
    MTRR A66G
    MTRR rs3776467
    NOS2 rs2297518
    NOS3 rs1800783, rs1800779, rs3918188
    PEMT rs4244593, rs4646406, rs7946
    SHMT2 rs34095989
    TCN2 C766G
    VDR Bsm

    Thank you

  • Greg says:

    What should I do for heterozygous mthfr 1298a>c ac? Any supplements?

  • Heather says:

    Dr. Lynch,

    How can I possibly deal with doctors who won’t listen to me or give me the time of day to even pass along information that would help them, help me ?
    I have looked high and low for a doctor. I have been to three family doctors, hematologist, endocrinologist, gynecologist, neurologist, DO, can’t find a naturopath in my area.

    How many classes do doctors take when they take your training ? Are there levels of this training ?

    So another one bites the dust……..
    The last appointment with a very well known hematologist did me in, so to speak. I have almost lost all faith in the medical world.
    I made so many phone calls and I point blank asked if the doctor knew about MTHFR, how to work with it if it needed to be worked with, will they run proper blood testing … Etc.
    I asked because I am tired of going and then asking and they look at me like I’m crazy. I thought that approach would gain some sympathy from one of the doctors and they would decide to want to learn [with me ] and get me healthy. As time keeps passing the worse I am getting. So, I go to the blood doctor with very high hopes, so excited,,, telling my family and friends how excited I was and I just couldn’t wait to meet him.
    When I arrived I was the only patient there and all other staff had gone home. I was the last patient.. Victim. That’s how I felt. Victimized.
    He tells me he can’t help me because those are my genes and that would be like me asking him to ” change the color of my eyes from blue to brown ” he said.. it’s just your genes and nothing you can do about it.
    Furthermore , he says, that my compound heterozygous mutation isn’t anything to be concerned about. He states that my two abnormal copies is like a mathematic equation where two negatives equal positive so – he says – I’m actually normally anyways.
    I was crying at this point in pure defeat and knowing better from learning from Dr. Lynch research and videos.. And what about ALL my symptoms ? I am 37 years old and I have been disabled for 3 years now.. Disabled at 34 and no one knows why ? I want to be a functioning, normal, living adult. My gosh if someone would help me. This is ridiculous because I know in my heart of hearts that it can be fixed, I can be fixed.
    This doctor ended up asking me to leave because I was crying. He never ran blood test, never looked at my blood work I brought with me that is over two years old, he didn’t even look at me other then a easy pay check..
    What he did was bill my insurance for 600.00 and I was there for approximately 7 minutes.
    I didn’t know he couldn’t change the color of my eyes.. What a shame and a disservice.

    I’m sorry for the rant but we really need more Drs like Dr. Lynch.

    All I can do is keep self educating, I guess. Seems like the only option, unless someone has any ideas they would care to share ? Any categories of doctors I’m missing ?

    • Dr Lynch says:

      Heather –

      It is so sad to read of these experiences with doctors. Sorry that you keep experiencing this.

      There are plenty of good doctors – but sadly they are indeed hard to find.

      The list of ‘Find a Doctor’ here on MTHFR.Net is pretty good and so is the Physician Directory at

      Good doctors:
      – Orthomolecular
      – Naturopathic Physicians
      – Functional Medicine
      – Environmental Medicine
      – ACAM

      Look for a doctor that belongs to one of those organizations and you should be in much better hands than that dingbat.

      He has absolutely no clue. He likely has no clue what ‘epigenetics’ is and that is what governs our genes.

      Hasn’t he ever wondered how genetically identical twins get different diseases and respond to stressors, foods and life differently than their twin???


    • Dr Lynch says:

      Heather –

      Have you read this?

      Give it a shot. It has helped a lot of people.

      I will add that I’ve found better success when starting with:
      – Electrolytes – as Optimal Electrolyte (my formulation) – mix 1 scoop in a large glass of water and have once to twice daily.
      Adrenal Cortex – 1 capsule in the AM and another around 1 pm if tired – with food.
      Optimal Adrenal – 3 capsules before breakfast if you are stressed and another 3 capsules later in the day if you are stressed again. Skip if you are not stressed or anxious.

      Starting with these three is safe and has really turned around a number of stressed and tired people – including yours truly. My schedule is insane and these keep me going very well.

      • Heather says:

        Dr. Lynch,

        It is very sad the issue with the doctors. What I don’t understand is that I’m not a single case. It seems that with more people having some issues related to the mutation that doctors would want to learn about this. I have thought about this a lot. Is it that they just don’t care or they don’t want to take the time to learn ? It is baffling. I have a laundry list of symptoms and pills for each and every one. I can’t take all those pills.
        I have this feeling my life will not be a long life if I don’t get things under control.
        I will continue to look for a doctor but I honestly have been looking solidly since 2012. Please consider me if you ever do long distance consults again. I will be the best patient and will do as directed. I know what it is like to have non caring doctors, I will not waste your time. I can only hope to one day have a doc like you.

        The link with optimal electrolyte , the product is not there.

        I will be purchasing all 3. I am so grateful , thank you so much 🙂 ! I have learned more from you in this short communication then I have in two years.

        Pick your brain ?
        I do have this one of many symptoms that is so bothersome …
        Anytime I get a little hot, or even warm, I get really itchy.
        If I get stressed , I get itchy , no rash or anything anywhere..
        It’s like the heat inside my body can’t escape or something, I’m not sure how to explain it. It’s the oddest thing. Started happening out of the blue about two months ago.
        No soap changes or anything like that. Did put a filter on the shower two weeks ago.

        Did want to mention something that might help people… If it matters or not ? I’m not really sure. I did a lot of reading up on it. Toxins in the shower inhaled and absorbed through the skin.. Any thoughts ?
        I put a shower head water filter on the shower because the city water chlorine toxins i was thinking maybe that was really bothering me. It has helped my husband ( non mthfr ) who’s eyes usually are really red after the shower , are no longer red at all.
        Anyways, not sure if that helps or not ?
        I can say this.. We have had several water main breaks in our area. I started getting bumps on my scalp, like blisters. Had about ten at one point. Was put on antibiotics which didn’t clear it. T Sal shampoo didn’t clear it up.
        I would say I’m pretty in tune with my body even though its out of whack. – I noticed when one would go away and when one pop up because I journal. So, I narrowed it down to the shower.
        Dr. Lynch ever since the filter has been on , I have no more blisters as of yesterday.
        Maybe that will help someone ?

        I will say though, I do not feel the internal heat which causes me to itch, I do not feel that does not seem to be related. I don’t think so. It feels like a histamine thing or cortisol ? Possible stress related ? Any thoughts ?
        I’m not sure, still working on it.

        Thanks Dr. Lynch,
        Keep up the great work !

        • Susan Hildebran says:

          Heather, An alternative to finding an MTHFR doctor might be to try a nutritional therapist. There is a Nutritional Therapist Association that has a referral list. I recently began working with one who also has MTHFR and have been very pleased. That may be an alternative for you until you find a good, understanding doctor. It seems that the medical community is being told to discount MTHFR as a fad. There are articles that advise not testing for MTHFR as the way to handle it. That is very disconcerting. As to your hot itchiness, do you have yeast or menopause? Good luck!

          • Heather says:

            Hi Susan,
            Thank you for your great suggestion to finding a doctor.
            I will absolutely look into that category ASAP.
            Thank you!
            Its funny I find myself asking random people about doctors .. Today I asked a girl working at the vitamin shoppe – she gave me the name of a eastern doctor that she said does alternative medicine.. So, I will see what that’s about.
            I’m really trying my best to stay hopeful and despite feeling the way I do.. I can not stop looking. I have lost more then half my hair, but my thyroid is “normal”, I have tons of mental stuff.. GAD, Panic disorder, major depression, ADD, social anxiety. I have severe memory loss – like when I’m driving to go somewhere , although I have been there a million times and know the roads, I will forget the way. I’m not sure if its anxiety and I start to panic and then forget.. I’m just not sure. I have fatigue and insomnia. So I can’t sleep but couple hours at a time then I’m awake again, then I’m tired through the day, severe shortness of breath on flight of stairs – I can’t breath, I have 0 energy, I mean none. My husband is ten years older then me, works 80 hours a week and on the weekend when we are together doing things, I will be falling asleep in the car, I can not keep up with him and by Monday when its time for him to go back to work– I am absolutely , completely exhausted , like I have just run a marathon. It’s so embarrassing. My back, my muscles, my joints, my body.
            Susan, I could go on and on with all these symptoms. I agree with you , it’s very disconcerting. I recently watched a video on YouTube about a doctor who had severely low vit b and he almost died. He was misdiagnosed by a friend neurologist and he nearly died. I can’t recall them speaking about MTHFR specifically but just seeing that and what that did to that man… He almost lost his life.
            I read an article you speak of from the Cleveland clinic about MTHFR. That was very disappointing and upsetting to me also.
            The itchiness – it is so weird. I vacuum and that little bit of heat I stir up inside my body will make me itch. No rash , no big bites. Nothing visible. It feels like an internal itch. We got some snow and I shoveled our steps and I got a little warm ( not hot ) started itching . It starts on my face, neck and head, then it seems to kinda ” migrate ” arms, mid section, back, not so bad on the legs, but it does effect the legs. I have had white dots on my skin since I was child. When i was little they were on backs of my legs, they have spread to arms, torso, hands, everywhere except face. Recently at the dermatologist she said I have veins so close to the skin and said that causes poor circulation. I’m not sure about that ? My Palms get real red with white dots all over them.
            I have a menstral cycle every month, on time within a day or two of when I am supposed to start. In had cervical cancer in 08 , cervix was removed. Also had to have veins stripped out of left leg because the circulation valve was not allowing circulation back to the heart. ( hope I’m describing that right )
            I get regular Pap smears , came back all normal in August. As far as my body weight, I have always been thin. It’s hard to loose weight when your so tired and lack the energy. I am currently about 20 pounds overweight although I have no appetite. I eat very little throughout the day, which I know is the wrong thing to do.
            What about to much yeast in the gut ? Is that a thing ?? I read if you spit in a cup of water in the morning and you get a line of spit from the top to the bottom, you have to much yeast. I’m not sure if this is true. I’m not sure what to much yeast means and how do you get rid of it ?
            You know when you feel like all of this is connected and if you fix the main thing that is causing the havoc then everything else will follow suit ?
            That’s how I feel about this.
            Thank you for taking the time to share and write , I feel we really can learn a lot from each other here.
            Thank you very much,

        • nancy says:

          heather. you’re not alone. I started itching out of the blue three years ago. now I also break out in hives. lovely. I cant begin to list the number of doctors I’ve been to, tests run, money spent. its beyond ridiculous. two months ago I found this site after googling {for three years} specific words trying to figure out what in the world is doing this to me. mentioned it to my gyn at my yearly and she’d heard of MTHFR bc of the miscarriage associations. got tested and long story short i’m a double mutant so compound hetero too. there has got to be something to help us. i’m determined and spend most nights looking around this site trying to figure it out. about the water…you’re onto to something. this started a few months after I started learning how to swim and now every day when I shower i start turning red and itching…its the worst time of the day but i do flare other times, but that’s the worst reaction time. just wanted to say you’re not alone.

          • Heather says:

            I’m thinking maybe you should check into getting a water filter. It can’t hurt..,
            When I put mine on, I couldn’t believe how much cleaner the air smelled in the shower! I guess you just get used to the smell of the chemicals and the chlorine to the point you don’t really think much about it , if at all, until the smell is gone.
            I did a lot of reading and read a lot of people reviews also.
            I ended up ordering from Home Depot , although amazon does sell them.. I ordered the sprite high output shower filter with shower filter. Part number is HO2 WH M. They run around 30 bucks. You can buy just the filter if you want to keep your shower head, but if you buy the filter with the shower head, the shower head just unscrews and its right around the same price anyway.
            I got the filter with the shower head and did not loose any water pressure, actually feels like we gained some.
            I was getting itchy in the shower also. I would get out of the shower with my upper arms being red, my chest red.. Hair like straw..
            The filter absolutely does make a huge difference , no doubt about that.
            Even my skeptical husband was very surprised. I can’t remember if I said this before but his eyes would be blood shot red, like your eyes get after swimming in the pool after the shower and I did tell the eye drs about it but they didn’t say much. I’m not talking — oh, there A little red… I’m talking it looked like he was squirting soap directly in his eye or something! After the shower with the filter it was the first thing I looked at him and the whites of his eyes were white and I’m not even joking! He was shocked too !! He also began to notice that the soap would lather much easier.. He said before he needed 3 pumps of shampoo , now only needs one and one lathers his whole head.
            I read to much chrloine prevents soap from lathering so you will have to use more and more. Not sure what kind of water you have city water ?? but the cities will up the chrloine in water to get rid of germs, …. Get this Nancy –
            They use disinfectants and the most common is chloroform a carcinogen , also mixed with chloramine which are toxic to the skin and when inhaled.. Now think about your enclosed shower. Ugh!!!
            I read that filtering your bath, shower water should be just as important if not more as filtering your drinking water because a warm shower opens your pores so the combination of what were inhaling and our skin is absorbing .. Absorbing and inhaling chloroform, and for people like us.. For everyone , that is not good. Maybe your skin is reacting to the chemicals ? I have noticed that I can not use any strong household cleaners or I will itch. Anytime I start to itch I write down what it is I’m doing so I can narrow down what the heck is causing it because I think to myself what if its something here, in the home I can narrow it down to so I can eliminate it myself.. I went the dermatologist route and they said puritits. Well, like you, I can’t live like this.
            Oh.. Before I forget, another thing I noticed is my cheeks would feel very tight and red after a shower before the filter. My skin overall would not feel clean and felt so dry —- after the filter my cheeks did not have that tight feeling, and have not been red since. Overall my skin feels clean and soft ! My hair is soft too, not straw like. No change on any products.
            We are putting filters on our washing machine water line. GE sells cheap filters you can buy at Home Depot , a little DIY with the hose connection but nothing serious. I will update on that.. Will have that up and running this weekend.
            Have you seen the new washers with the allergy cycle ? Those are calling my name lol
            I also seen at Home Depot they have at the exit door a “free test your water”
            I went to get one and they were all out. Guess I’m not the only one wondering what’s in there.
            My worst flare reaction time also would be directly out of shower – like you, which has so far not happened since the filter, but still getting the the itchy when I get a little hot. Sometimes I wonder if the toxins caused by the shower are trying to come out and as the body temp rises in turn causing us to itch ?
            I hate you are going through this so long. You are not alone either. I will be here for you.
            What do you think about this water thing Nancy ?
            I’m thinking a lot about all this. What your saying and what Susan is saying.

        • Susan Hildebran says:

          Hi Heather, Your list of symptoms is staggering, to say the least. In reading through it, I wondered about Reyaud’s Syndrome and yeast/Candida most often. It seems that a lot of the people with MTHFR have chronic yeast or Chronic Fatigue or Lyme’s Disease. They seem to go together. I am in the yeast category. From what I have read, healing the gut is the first step toward getting better. Poor digestion keeps you from absorbing the nutrients in your food and supplements. Yeast causes leaky gut which allows larger particles to get into the blood which leads to food allergies and systemic yeast infection. You may benefit from reading up on yeast. Yeast is a major source of itchiness, although your pattern is different from what I experience. If I eat something sweet, I will become itchy in the warm, moist areas. Treating yeast involves starving the little beggars. You mentioned that you do not eat much, so I would suspect that you may be nutritionally deficient. The nutritionist put us on an elimination diet and what we do eat has to be as organic, grass-fed and natural as possible. The veggies have to be cooked to make them more digestible. In 3 weeks, we are both detoxing, just from changing to a cleaner diet. With MTHFR detoxification is slowed. Eliminating contaminants and allergens from our food has allowed the body to do what it needs to do. A big factor in not sleeping well is glutamate sensitivity. If you are eating foods that are high in glutamates, it will keep you up and alert at night. Glutamates are excitotoxins that cross the blood/brain barrier about 6 hours after eating them. Dairy and nuts are two big sources of glutamates, as are processed foods and MSG. If you are not already on a strict elimination diet, that may be a good starting place for you. My sleep went from 4 hours a night to 7 when I began the elimination diet. Every body is different, so it is important to get some guidance from a professional, but some of this you can start on your own.

          I don’t know about the white dots on the skin, but it is probably tied in with the rest of this. Reyaud’s Syndrome usually involves cold hands and feet that turn white in cold weather. Yours sounds different, but there may be something in that body of information that would help you. It is associated with MTHFR and I think a Vitamin B deficiency if I recall correctly. It may be worth doing some reading on that subject as well as the yeast. The white dots should be meaningful to the right professional, especially since you have always had them.

          It sounds like your scalp problem was fixed by the water filter. I had a similar scalp problem that seems to be caused by eating chocolate or drinking coffee or tea. Very odd!

          Be assured that you are not alone and there are answers out there. I would start by cleaning up the diet and healing the gut. Best wishes!

          • Heather says:

            Hi Susan,
            I was wondering how you are feeling ?
            Anything new ?

          • Susan Hildebran says:

            Hi Heather, There is not a lot to report here. We are still on the elimination diet, which is getting old, but I feel better when I am staying on it. Improvement is slow but steady. My sleep has been MUCH better so long as I stay away from high glutamate foods. When I mess up, I am quite irritated with myself. Overall, I feel much better and my son is noticeably better as well. I am now able to eat a little chocolate and drink an occasional cup of tea without getting the itchy scalp or severe back pain, so that is a nice improvement. I am more and more convinced that nutrition is the way to go. I am thankful to have the nutritional therapist to guide us.

          • Heather says:

            No reply button to my question to see how you are doing.
            I’m happy you and your son are feeling better 🙂
            That’s good news. I commend you. It is hard to change eating habits.
            Is the elimation diet like detoxing ?
            How exactly do you heal a leaky gut ?
            How do you know if its leaky ?

          • Ann says:

            White dots on the skin is from a B vitamin deficiency.

          • Ann says:

            Also yeast feeds on B vitamins…I would get a stool test done to check for yeast overgrowth…chronic yeast overgrowth from poor diet and taking antibiotics will cause the imbalance of yeast and bacteria in the gut. I have this problem and a leaky gut from having been not properly tested for lyme 20+ years ago.
            Chronic candida overgrowth causes a leaky gut and Cyrex labs does a blood test for this….please get to a functional and integrative medicine md.
            Dr. Rosenbaum can help….he’s in San Rafael …also Michael Slezak knows the MTHFR issues he’s in Santa Cruz, CA
            Just go on the website and they list MD’s, etc. that can help with MTHFR issues but also look for one that is an Integrative or functional medicine MD too!

        • Nancy says:

          Hi heather. I will check into the water filter. Thanks for that tip. Two things I found recently…Look up the term aquagenic urticaria. Also look at this:

    • ACurtis says:


      Have you ever done a self-test for Pyroluria? You could very well have that genetic mutation as well. It is also “solved” through taking specific nutrients that your body is unable to use/process correctly. This is something that me and my family will be looking into. Especially me, because I can barely stand the fact that I cannot sleep but am so tired and my mind races all the time, but esp when I lay down at night and try to sleep. My thyroid and adrenals have tested fine. The only other idea I’ve had is maybe needing SAMe. I do have a ND who is working with me on heavy metal chelation and is interested in learning with me, but he does not have any specific training in MTHFR (or Pyroluria), but he DOES know what it is because he has had patients with it. He says, though, that there is usually a more underlying issue/problem over and above just the MTHFR mutation(s). (A lot like Dr. Ben keeps saying, that we need to look at the other factors/problems that the 23 and Me test shows. Just because you have a SNP say you are +/+ or +/- DOES NOT MEAN that that SNP has been activated.) Hence why I am currently chelating, as I have severe heavy metal toxicity. My ND will start looking next at all the rest of my mutations as were uncovered in my 23 and Me test.

      It’s frustrating, because I wanted to be healed yesterday. I have been fighting the fight since 2008 and started seeing my new ND in April 2015. Making some strides but going very slow. Seems like when we uncover/start healing one area, another one pops up. Figuring out the underlying reason for ALL the various health issues is the key to figuring everything out. It’s finding that key that is the hardest.

      Hang in there!

  • SUZAN says:

    2.5 year old son was diagnosed with autism diagnosis. Moderately high lead from heavy metals. They also have homozygous MTHFR A1298C mutation. There is a lot of food allergies. We’re on a diet. I can not speak. Number of words but not too much. Methyl b12 spray, NDF plus Folinic acid, multivitamin, zinc, enzymes, prebiotics and probiotics are using. What should I do to speak. Like every mother I am afraid of being late. How should I organize nutrition for this mutation. Please help me.

  • Stephenie says:

    Hi Dr. Lynch,
    My 18 yr old son is heterozygous (+/-) for VDR/Fok, MTHFR/3, MTHFR/A1298C, MTRR/A66G, BHMT/2, BHMT/4, BHMT/8, CBS/AA360A, and NOS/D298E. Also, NAT2/I114T, NAT2/K268R, and GSTP1/I104V.

    He is homozygous (+/+) for MAOA/R297R, CBS/C699T, and SOD2/A16V.

    GSTM1 (glutathione s-transferase) is null.

    He is on a GF, CF, soy free, corn free, egg free, organic diet that includes very few grains and minimal sugar. He gets glutathione IV’s weekly and takes many supplements. He has been diagnosed with a mitochondrial dysfunction through muscle biopsy – complex 1 is affected. High dose CoQ10, carnitine, creatine and B vitamins have helped tremendously.

    He has many of the signs and symptoms associated with MTHFR/A1298C mutation. One problem we have been unable to correct is persistent anxiety, worry, and fatigue. He says he feels stressed all the time.

    He is taking supplements for adrenal support – C, pantethine, magnesium, l-theanine. Thyroid levels (TSH, T3, T4, free T3, free T4) levels are all fine.

    He has negative reactions to methylcobalamin and MTHF. (first day wonderful, then crashed) He did fine with hydroxocobalamin years ago but isn’t taking any now. He does take 50 mg of niacin and 2.5 mg BH4 daily, which seem to help.

    He tried 5HTP once and it made his worrying increase. We stopped after a week.

    My question – can you help me with his fatigue, anxiety, worry, stress and depression? I would be glad to schedule a consult, read any information you have, or try anything you suggest. You are the only person I know of who might understand his physiology!
    Thank you for all you do. I don’t know you, but you hold a very dear place in my heart.

    • Dr Lynch says:

      Stephanie –

      I would consider more fat in his diet – check his RBC Fatty Acids and ensure he is getting enough phosphatidylcholine.

      Read this book


      Liposomal glutathione will do more for him that IV. IV goes through his system in 12 minutes. Whereas with lipsomal, it stays longer and you can easily give him more.
      I like to mix in a bit of juice or squirt a bit of liposomal vitamin C, have them hold it in their mouth, and then squirt in the liposomal glutathione and swallow. Can follow with a bit more liposomal C to wash it down. The liposomal C tastes pretty good – liposomal glutathione – not so much.

      Here is the liposomal glutathione and liposomal vitamin C

      I would also consider Thiamine for him – he may do well with B Minus – a B complex with good amounts but no B12 or folate.

      Optimal Start is also something to consider for him – it is all minerals except iron, copper, calcium and all vitamins except B12 and folate.

      If he does have a complex 1 issue, then he should do very well with NADH + CoQ10 – it support Complex 1 completely with these two nutrients. Have him dissolve one under his tongue daily – or maybe even twice daily – when he gets tired. He may do best with just 1/2 lozenge at first. Do FIRST thing when he wakes up. Before anything. By his bedside. Best to use away from food.

      What MAO variant does he have? T or G?

      If he does well on Niacin, I would give him more of it – 50 mg a few times daily. We have a lozenge if that helps – or a small capsule. The NADH + CoQ10 will help his mitochondria but more niacin may also help him. Adjust the niacin amount and see.

      To help his worry and stress, Optimal Adrenal may help with that. Consider 1 capsule. However, if his adrenals are wiped out, maybe just pure Rhodiola or Ashwagandha may help reduce his stress.

      Evaluate histamine foods and how he responds to them. I know it is more work but histamine can really impact mood, feeling, etc. Visit

      One more thing – sorry – but he needs a lot of support and I would support with Optimal Electrolyte – it has D Ribose, creatine and electrolytes in it – which he likely needs for his muscles. D Ribose could really really help him. He will like the Orange most likely but my oldest boy loves the Berry. Two other boys love the Orange.

      I believe you should see some improvements within a few days with these changes. Do inform how he does with them.

      • Stephenie says:

        Dr. Lynch,
        Thank you so much for responding. I just ordered the books.
        We have increased his fat intake recently by adding MCT oil, 2 teaspoons at bedtime. We’ll add more. He is taking Phosphaline liquid phosphatidylcholine, 1500 mg a day. Do you recommend a higher dose? We just completed a Fatty acids Profile (plasma) test through Genova Diagnostics, which did not show any abnormalities. Phosphatidylcholine isn’t specifically mentioned in the results – is there another name for it?
        We will try your liposomal glutathione. In your opinion, would the liposomal form be sufficient to replace the s-acetyl glutathione tablets and the twice monthly glutathione IVs he is currently receiving? What dosage should we aim for? I know this supplies PC and GSH, which is great. I don’t want to under dose him … (weight 127 lbs.)
        In your opinion, would 1 capsule of B Minus daily contain enough thiamine for him, or would we need to add an additional source?
        To be sure I understand correctly – Do you recommend I always avoid giving him supplements containing B12 (even forms such as hydroxocobalamin and adenosylcobalamin) and MTHF? How about calcium, copper and iron? We have had to reduce Ca in the past to minimize the effect of elevated glutamates…..
        He is currently taking Coenzyme Q10 (800 mg daily), Corvalen d-ribose (5 g daily), and creatine monohydrate (500 mg daily). All have helped greatly. I’ll add more niacin and see if that helps, too. Hopefully we can decrease the amount of supplemental CoQ10 he takes when we add the NADH/CoQ10 combo. Do you think I should add something like Pedialyte to his regimen for additional electrolytes?
        Don’t know what MAO variant he has. We did Amy Yasko’s genetic testing. The only identification we have on our test results is MAOA/R297R.
        We have tried Ashwaganda before and he noticed increased worrying. L theanine seems to help him calm down mentally, but I realize it probably contributes to his fatigue. I know he needs an adrenal boost…. Never tried pure rhodiola but will look into that.
        I’ll let you know how he does with the changes you’ve recommended. Again, thank you!

  • Rebecca Hill says:

    Don’t tell me there aren’t issues with A1298c!!!!
    I am so sick I want to die!!

    • Dr Lynch says:

      Rebecca –

      There can be issues with A1298C as there can be issues with a MTHFR gene without ANY mutations at all. It is EPIGENETICS that is the critical piece – not just genetics.

  • Marjorie says:

    Dr. Lynch I need your help please as I have had strange issues over my life time one of them being emotional, moody, angry, etc. I can’t tolerated epinephrine as I immediately go into vasovagal reaction. In high school I would have emotional outbursts, anxiety…in my 20’s I started with depression….my mothers side of the family has anxiety and depression. My mother has been extremely moody, cranky and irritable her whole life. She now has been diagnosed with MCI, early stage of ALZ.
    Who can help me? I have a FM doctor who told me not to take SamE but another doctor, a GI doctor did! Do doctor’s really know what they are doing? I am suffering terribly…I cry, get anxious, get angry..have moodiness…basically all over the place and I am extremely nutritionally deficient because I have a damaged gut lining…leaky gut…from drinking alcohol for years and having candida and not being helped at the right time and finding the answers I needed to correct the anxiety…Its so sad ..a very sad story…I have spent thousands of dollars trying to find the answers to why after the age of 12 I started having hypochondria and anxiety…I would actually pull my hair out it was that bad!
    I did the 23andme test and merged it with the Genetics Genie and have my results….I don’t know who can interpret these results…i was going to consult with a regular geneticist but not sure.
    Here are some of my results:
    MTHFR A1298C +/-
    MTHFR C677T -/-
    COMT V158M +/-
    VDR Taq+/+
    BHMT-04 +/+
    CBS C699T +/+
    MTRR A66G +/+
    Plus many more +/- and -/-‘s

    Please I need answers for my health issues and my family’s. I can be reached via email. I have been told I have methylization and acetylation issues but haven’t really been helped.
    Thank you so much.

  • Marjorie says:

    Plus Dr. Lynch I take 500 mg of glutathione cream on my wrists everyday. I have issues with sulphur…..not sure why….I am extremely nutritionally deficient because I believe the candida now fungus was eating my vitamins plus the alcohol depleted the glutathione and other B vitamins.
    All this happened because no one understood the problem of poor methylization and how the genetics came into play….I have suffered my entire life and have been so misunderstood….I am crying now its so painful. I have been so mistreated and humiliated my whole life because of my genetics. I couldn’t cope and had so much anxiety, low self esteem etc. I started drinking to suppress my emotions and pain.
    I have Mitral valve prolapse as well as my mother…it seems i picked up her bad genes. There’s anxiety and depression on both sides of the family…and I am the one finding out now why….I think its this methylization issue. My father is a borderline diabetic and his mother died from complications associated with Diabetes 2.
    Please help us to find the right person to help our family.

  • Marjorie says:

    Dr. Lynch,
    You need to know that every time I take B vitamins and this has gone on for the past 5 years since having a yeast/fungal overgrowth, the fungus grows….. and now I have fungus in my stomach and intestines…branching, I don’t digest my food well either..
    I think I see now why I got Candida 20 years ago. My genetics problems (poor detoxification/methylization/Acetylation) coupled with being given antibiotics as a child and youth has contributed to my early demise.
    Main stream medicine has no clue! I am so mad!
    I came down with CMV, EBV and Chronic fatigue syndrome right around the time I was diagnosed with Candida back in 1992…in 1988 I went to Mexico and came back with Intestinal problems and was diagnosed with IBS. 20 + yrs later on a stool test Blastocystis Hominis was found! I was never breast fed as I was a premie baby back in 1958…breast feeding was never encouraged. In my early 20’s I started experimenting with cigarettes which made me very ill…tried Cocaine and had major issues after 3 times, ended up in the urgent care with heart palpitations…also had problems with Marjuana…I now understand why…the genetics flaws. If I had known what I know now I would have never experimented.
    There needs to be more research in these areas to help others like myself.
    I don’t know how bad alcohol is for these genetics issues but i can only imagine (drank 2-3 glasses of wine per day and binged on the weekends to suppress my anxiety and pain)…My gut is pretty damaged and I live in a vicious cycle….All of this happened because the research wasn’t there for individuals like myself. I pray that my pain and suffering end someday soon. Oh by the way, my mother drank 2 martinis a day and smoked cigarettes, while I was in her womb back in 1958….I wonder how much this contributed to my current health issues.

  • stacy lundblad says:

    I have had burning mouth for over 2 years and now found I have 1298 MTHFR plus CBS and COMT V 158M & COMT H62H, VDR taq MAO-A so the methylation cycle is not working. My diet is veggies and meats with nuts … I have been asked to take hydroxyB12 and methylfolate along with zinc and carnitine, theanine serene, NAC, Vit D, choline, Vit E, magnesium… I find that someitmes my mouth really acts up so I take niacin and that helps some. I am trying to fix this. I need help knowing what supplements will help me so that my tongue will not feel fizzured and lips numb.I also keep getting cold sores on the outside of my lips.

  • Cindy Rack says:

    Hi Dr. Ben

    You have made so many things clear in my family reading your material. Thank you so much for all your hard work on this. I’m don’t want to go into all the details, but my mom has arterial heart disease as well as pulmonary embolisms and more. My brother died at 48 a few years go from fatty liver disease. I was diagnosed with stage 1 Brest cancer In January and my sister has leaky gut and other health issues. I recently found I have compound MTHFR, my sister is homogyzous and my other sister has a single 677T. Since I didn’t want to take the arimidex after survey, i eliminated all toxins from my home, use only vegan makeup and cleaning products. I purchase only organic food products and I’m mostly vegan with no soy, dairy, sugar or gluten.

    I found on your site a protocol for 677T but I haven’t found one for compound. I just sent for my 23andme genetic work up. I will filter thru your system and I will be meeting with Marjorie from circle of life nutrition once I get the results.

    When my mom had her fourth blood clot 4 years ago the des told us to get tested for mthfr, but when we came back positive they just said take some B12 and folic acid and you will be fine. It wasn’t until I have been doing my research for my breast cancer that I came across your website. If the doctors would have treated this correctly, I can’t help but think that I might not have gotten the Breast cancer. You are saving my whole family’s life! I. Ant thank you enough.

    Do you have a specific protocol for compound MTHFR?

    Thank you. Cindy

  • Ann says:

    I just received results that I am heterozygous 1298 after seeing practitioner for still having chronic fatigue, brain fog and fertility problems with implantation.

    however, about 6 months ago I used up some old (expired 2004) vitamin B6, and got an amazing boost of energy that lasted for about 4 hours. however, I could not repeat the results on subsequent days.

    I began exploring the B vitamins, and did find methyl B12 chewable 5,000. I tried these, but with no effect … eventually taking 5-6 at a time with no effect.

    one of your earlier posts mentioned 5-HTP, and I tried this two years ago with terrible side effects of headaches, nausea, and body pain.

    1. if taking methyl B12 has no effct, then is the MTHFR a non-issue?

    2. what is the relationship with MTHFR and 5- HTP?

    Thak you and keep up the good work.

  • Margaret says:

    I am homozygous for A1298C MTHFR mutation. Unfortunately I am also homozygous for a cytochrome P450 enzyme. I have had at one time or another almost all of the symptoms listed. Luckily I have a great doctor. She practices Integrative Medicine in Baton Rouge, La. Her name is Stephanie Cave, I first presented to her with fibromyalgia symptoms. My body was on tilt. It was reacting to everything in my environment, I was in a lot of pain, could hardly move and had heart arrhythmias. This was 17 years ago. First thing she told me to do was remove all my amalgams(over 10 of them). Then chelate. She used Bioset to treat the sensitivities and of course lots of supplements. Much improvement but always felt like I was on the edge of ill health. I had to do everything right. Then she suggested doing genome testing. After seeing the results and doing research I realized that all my family’s issues came from these mutations in the methylation pathways. Presently all my children are getting tested so we can prevent all the suffering they might experience in the future for themselves and for their children. I have 7 grandchildren that need to be protected.

  • Erika says:

    Hello. I am heterozygous for A1298C and 17 weeks pregnant.
    I am taking Metanx and regular prenatal vitamns( bayer,” one a day “)
    This vitamins include folic acid,but I saw a comment that says” don’t take folic acid”.
    She recommended Thorne research basic prenatal.( it’s true folate?)
    So I’m concern about my baby now. Even if I’m taking prenatal vitamin , is that no meaning? Doesn’t my body absorb folic acid?
    Please give me advice.

  • Jessica says:

    Hello Dr.Lynch,

    Thank you for the work that you are doing to educate the public about MTHFR mutations. I am homozygous for the A1298C variant. I had never even heard of MTHFR mutations until recently. This is all new to me. My naturopath prescribed a compound (compounded in house at Piedmont Wellness Center in Greensboro) of methylfolate and a methyl form of b6 and b12. They call it MMB and it says 5mg/2.5mg/50mg
    I was told to take it every other day because I do not have the C677T variant mutation. She said that if I did have the other mutation in addition to the homozygous A1298C variant mutation, then it would be a good idea to take the supplement daily.
    Do you agree with this recommendation? Also, do you recommend any of the prescription forms of this supplement such as Metanx?
    I am still suffering from quite a bit of muscle pain and tension, especially in the upper back and shoulders. I suffer from fatigue as well. I have also been diagnosed with Hashimoto’s Thyroiditis, and take armour thryroid. Thank you very much, Dr. Lynch.

  • Elizabeth says:

    The muscle pain/discomfort esp. in shoulders, neck, upper back, also fatigue (throw in brain fog and emotional discomfort and some other symptoms), reminds me of what happens when I eat gluten accidentally–there’s almost an immediate reaction, neck and shoulder discomfort first, happens very quickly. In case this helps.

  • Renee says:

    Dr Ben,

    I am confused in the beginning you say only one mutation of mthfr a1298c homozygous can cause problems but at the bottom you say it does not unless accompanied with a secondary mutation so which is it?

    • Dr Lynch says:

      Renee –

      I currently believe (my thoughts change on it as I get more research and more experience) that a single A1298C MTHFR mutation does not cause that significant a problem unless it is combined with another 1298 or 677.

      If one 1298 is combined with a 677, the MTHFR enzyme capacity is reduced about 70% or so.
      If two 1298s are combined, the MTHFR enzyme capacity is reduced by about 40%
      If just one 1298, only about 20% of the MTHFR enzyme capacity is reduced.

      Of course, there are multiple other things which affect the performance of MTHFR.

      This online course will answer a lot of questions:

      • Marjorie says:

        Dr. Lynch if your pancreas isn’t working too well and you have a fungal overgrowth that has branched and rooted itself into the stomach and intestinal lining, how are the genomics affected? Does poor nutritional absorption affect my genetic mutations?
        I have :
        +/- COMT V158M and H62H, +/+ VDR Taq, +/+ MAO-A R297R, +/- MTHFR A1298C, +/-MTR A2756G, +/+MTRR A66G, +/-MTRR A664A, BHMT-02, +/+ BHMT-04, +/-BHMT-08, +/- AHCY-01, +/-AHCY-02, +/- AHCY-19, +/+CBS C699T, No Call CBS N212N.

        I need help in finding the best practitioner to help me to support my health. I used to work in a very stressful work environment 24 years ago when I came down with Candida. My adrenals were never supported…so I was just treated with a candida diet which didn’t help because the adrenals weren’t being supported so the candida took off…end of story…20years later my gut is so damaged, I have pancreatic insufficiency and a branching rooted fungus in my stomach and upper intestines. I need some serious help. Can you recommend a professional that would be qualified to help me.
        I would be most grateful…as I am hurting. Thank you so very much. This has been a long and painful journey.

  • Marjorie says:

    Also Dr. Lynch I forgot to mention that the Detoxigenomic profile done and me showed issues with CYP1A1, 1B1, and 2C19. Plus, Acetylation (slow metabolizer) NAT2 I114T +/-, (fast metabolizer) NAT2 K268R +/-, Glutathione Conjugation (absent) GSTM1 1p13.3 Liver/kidney, +/- GSTP1 I105V Brain/skin, Oxidative Protection +/- SOD2 A16V Mitochondria.
    I would be most grateful for any advice at this point of who I could turn to with my health struggles. Thank you.

  • Debbie says:

    I have factor five my brother does not but just has found out he has homocystence MFTHFR Mutation do I have a chance of having homocyststeine MFTHFR Mutations as well I have a lot of the above symptoms and conditions I have had five blood clots and one pt to my lungs should I be tested for this both our parents are gone my brother keeps having strokes and small bloods clots to the brain for about three years finally they just ran the test for this condition and he has it they tested him three times for fator five and he does not have it, I however do I take 20 mg of warfin a day what are the chances of me having this condition as well

  • Katie says:

    I have a heterozygous A1298c. My doctor said I’m anemic, but not in an iron deficiency way. She has me on 400mcg methylfolate per day. Are you saying that isn’t necessary?

  • Heather says:

    What does this mean on my genetic report: 1298A>C AC, 677C>T CC ? Are these abnormalities? Thanks.

    • Dr Lynch says:

      Heather – means you have 1 copy of the A1298C MTHFR variant and no C677T variants. Your MTHFR enzyme functional capacity is reduced by about 20%

      • Heather says:

        Thanks Dr. Lynch! Should I be taking any supplements for this? I’ve had some depression and anxiety over the years that I’ve treated with very low doses of medication…do you think these issues may stem from the 20% reduction in MTHFR enzyme function? Overall, I’m an active and healthy person otherwise.

  • Judy says:

    I have just come across your web site and am finding it very informative. I have had health problems most of my life it seems, but more so in the past 25 years. I was then diagnosed with Chronic. Fatigue, but some Drs seem to think it is associated with Subclinical Hypothyroidism. Most treatments work for a short while but then my body seems to adjust to the medications then stop working. I am heterozygous for both the A 1298C as the C677T , and I seem to have lots of those symptoms listed, but have had 3 healthy children, who are all grown up now. I have terrible brain fog, and people have suggested that I might be getting dementia. I am going to take some of your information to my new Dr when I see her next year,but at present she has me on 2 monthly B12 injections, as my levels were a bit low again, and my Vitamin D is usually low even though I supplement with capsules. Thank you for listening to me,

  • Ann says:

    Have you ever had your adrenal checked? And also do you have a candida yeast issue? Maybe your adrenals are exhausted? Chronic high levels of cortisol also causes much inflammation in the gut.
    Also, have you been tested for the HLA DQ2 gene?
    Have you had a Detoxigenomic profile done?
    Have you a Cyrex test done for leaky gut?
    Have you had any viruses like Herpes, Hepatitis, etc. Cytomegalovirus, EBV?
    Perhaps your diet is not nutrient dense? Too many carbs and grains?
    Dr. Sarah Ballantyne offers for those who have Autoimmune conditions her book and cookbook.
    Do you have any parasites, like Blastocystis Hominis?
    When you have many of these present your immune system takes a beating and can’t fight things off as well. When you have chronic stress your adrenal take a beating especially after menopause when you’re not producing hormones any more that help to support them.
    I hope this information helps you to find the answers you’re looking for. There are many wonderful practitioners that can get to the source of why you have CFS. I had it 24 years ago and it was very debilitating.

  • Kristen says:

    HI Dr. Lynch
    I am homozygous A1298c, 12 weeks pregnant, and experiencing major depression. I bought the prenatal vitamin from Seeking Health and I haven’t been able to take it every day due to nausea. I was wondering beside these vitamins is there anything else that I can take to elevate my mood? My diet has not been great due to the nausea. I’ve been eating a lot of gluten, which I normally didn’t prior to pregnancy. I know my diet or lack there of plays a big part in my depression along with lack of exercise. Not one of my doctors seems to know how to treat me and think MTHFR deficiencies aren’t a big deal. Thank you in advance for your advice.

  • Lauren says:

    Hello Dr. Lynch,

    I was recently diagnosed with a single mutation of the A1298C variant. Reading over all the info on this site and specifically this article, it sounds like being heterozygous for A1298C alone does not pose much risk and is not the cause of other symptoms unless there are other genetic mutations/methylation issues. Am I right?

    Since I have had many different symptoms for basically my entire life (fatigue, brain fog, joint pain, digestive issues, varying degrees of anxiety and depression, overwhelm, chemical sensitivity, fat mal-absorption, hormone imbalance, low probiotic count, etc), I’m wondering what further testing you might recommend to follow up on other mutations/methylation issues and get some more conclusive answers to all these symptoms finally. I have a follow up with my doctor in about a week and I’d like to bring information to show him/tests to ask for.

    Thank you so much for everything you’ve put together and continue to put together here. It has been most helpful in trying to learn more about MTHFR!


  • Ann says:

    You sound just like me! I would get to a functional medicine md that knows the MTHFR genetic mutations, etc.
    If you have ever eaten any meats that have been treated with antibiotics that would explain the low counts of good bacteria in your system.
    Perhaps you have a parasite, Blastocystis Hominis. Genova Diagnostics stool test could help.
    It also sounds like you may have adrenal gland issues…all of your symptoms are inner related. These things may be affecting your methylation pathways. I was just reading how an imbalance of gut flora plays on your methylation pathways. There’s a doctor I talked to yesterday on Red Mountain Natural Medicine in Boise, Idaho, that has articles on his main webpage that talks about this.
    I found a naturopath in Santa Cruz CA that is going to help me. I have candida overgrowth and immune system deficiencies also because I have a leaky gut. Perhaps you have this also. You can find him on the website under practitioners. I would get someone you understands how the whole body works including methylation pathways…I would not just go with just any Functional Medicine md because some of them know more than others….just speaking from experience. Do your homework…
    Hope this information helps.

  • Becky says:

    Dr. Ben,
    Help! I’m overloaded with too much info. I am A1298C/C6771 (one copy each). I have no symptoms. I found out because my daughter found out she has 1 copy of A1298C. Her doctor recommended methylfolate800 mcg and methlycobolamin 1000mcg. She has been taking it for over a year for possible anxiety issues. She is now pregnant 13 weeks and I went to your web site to see what Prenatal you recommended. Now I read hers is very mild form. Do you recommend she continue to take the above recommended by her doctor? Do I need to take anything myself? Were both getting so stressed out because we don’t know what to take. Her OB/GYN isn’t the doctor who prescribed the supplements. Should she be taking that much methylcobolamin? methylfolate?

  • Susan Shears says:

    Dr Lynch, I have MTHFR/A1298C, MTHFR/C677, CBS/699 and a few more….and I know I am seriously low in BH4 . I developed acute swallowing issues this last month and am wondering if it could be caused by the detox reaction to BH4. Dr Yasko said that I really need to take the homeopathic BH4 but so far it is not helping and my swallowing issues continue. I did have this issue going back 3 years before I even started but it was quite mild then and now it is quite pronounced. I am taking a myriad of supplements but still not yet on methyl folate and methyl B12. since I was told that I need to bring my taurine levels down first. Any thoughts or ideas as to how I could turn this around would be so appreciated. Thank you. Susan Shears

  • Monica says:


    My husband was diagnose with Lyme disease through the Igenix testing. He also has a single mutation A1298C as well. He has been on a ton of antibiotics to treat Lyme and I think this is what is making all his symptoms way worse. He had started to feel better for a little while but more recently has gotten worse. ( fatigue, brain fog, joint pain, digestive issues, varying degrees of anxiety and depression, overwhelm, chemical sensitivity) are just a few of the worse ones. His brain fog and anxiety levels have gotten so bad lately. He also has SUPER bad digestive issues. He has been using coffee enemas due to him not being able go on his own, he will wait 3 days and still nothing. He has recently been passing what to us seemed like parasites only to have the stool screening come back negative. I know in your article you say a single mutation of A1298C is not alarming but do you think this could STILL be the bottom cause of all his issues? It cannot be good to be on so many STRONG antibiotics for that long of a time right?

    • Ann says:

      Does your husband take probiotics? She should as he’s taking antibiotics. I am sure your doctor is looking out for him.
      When you have Lyme the die off symptoms are terrible…sounds like what he’s experiencing. He will feel really sick while undergoing treatment for Lyme. This is what I have been told. If he wasn’t sick then the treatment wouldn’t be working.
      I know a Lyme doctor in Concord, CA that has cured many people as well as the one I am currently seeing in San Rafael, CA ..Dr. Michael Rosenbaum.
      If you like to know more please email me.

  • Susan says:

    Dr. Ben,
    2.5 year old son was diagnosed with autism diagnosis.
    They also have homozygous MTHFR A1298C mutation.What to use for this mutation. What should be the dose. Folic acid, alarm önerinizn other supplements and nutrition?
    Help me?

  • Susan says:

    Dr. Ben,
    2.5 year old son was diagnosed with autism diagnosis.
    They also have homozygous MTHFR A1298C mutation.What to use for this mutation. What to use for this mutation. What should be the dose. Folic acid, what are your suggestions for other supplements and nutrition?
    Thank you

  • Angela says:

    Hello Dr. Lynch! I hope you can provide me with some insight. I just found out I am positive for homozygous A1298c/A1298c. I’m trying to get pregnant soon and my gyno ordered pre pregnancy testing. It came back positive for the A1298c/A1298c homozygous and it also said I am NOT immune to Rubella (German measles). The doctor said I should get the vaccination because if I become pregnant and get Rubella it could be deadly and life threatening to the baby. I’m wondering if it’s safe to get the Rubella vaccination with my A1298c gene mutation. Dr. Ben do you think it will be safe for me to get this vaccination? I’m afraid to not get it because I’d feel guilty if anything would happen to the baby if I did contract rubella during a future pregnancy. I’m also worried about the side effects of getting the vaccination before becoming pregnant. This is all new to me and very confusing. I’d be grateful for any insight you might have!

    • Dr Lynch says:

      Angela –

      It depends on where you are, your immune status and if you have other children – and it may depend on time of year as well.

      Please read this article

      There are cleaner forms of the rubella vaccination most likely – better than the standard MMR – so if you do vaccinate, ask your doctor for just the rubella vaccination – and before you vaccinate, READ THE package insert. Ask for it. DO NOT assume the doctor will be honest with you on package inserts.

      • Angela says:

        Dr. Lynch,

        Thank you so much for getting back to me. I have no children yet. My doctor ran some pre-pregnancy blood work on me which is how I found out I have the A1298c/A1298c homozygous mutation. I am planning on ordering your prenatal multivitamin since I am learning that I need to stay away from folic acid and use the methyl form of B12. If I choose not to vaccinate for Rubella, I am just worried that when I become pregnant I’ll come in contact with that virus and it will be extremely harmful to my baby. I’m also worried about the effects of getting the vaccination now based on the article you provided. I’m leaning toward not getting it since rubella seems to be very rare. Thank you so much for your input on this matter. I really appreciate it!

  • Diana Howell says:

    Thank you for this outstanding article! I was recently diagnosed with homozygous A1298C. I’m starting to believe that this is what was behind my poor health for years. I was first diagnosed with fibromyalgia, then CFS, then MS, then Lyme Disease. You get the picture. Only when the LLMD tested me for the MTHFR defect because of elevated homocysteine levels did we discover the defects.

    My question…he started me on MethylAssist to address this problem – after 54 years of it going unchecked. Although the label specified 1 pill daily, wanting to rectify this more quickly I took FOUR. Huge mistake…I felt really awful. Was wondering. How long (if ever) can I expect this health issue to get better AND should taking this pill initially make me feel terrible, which it is (shaky hands, lethargy, apathy).

    Thank you for taking the time to read this. Have a blessed evening.

  • paula says:

    I have been diagnosed with two mutations of the gene MTHFR: C677T and A1298C in the past month. My doctor immediately began a B12 shot (methylated version, of course), in which I get once a month. She also gave me 5-MTHF, I take this once a day. She said to avoid gluten, folic acid, sugars, and try to eat grass feed meat. I have started a gluten free diet; however, I also was diagnosed with vitiligo 2 years ago and I am confused about the Paleo and Autoimmune Disease Diet. Since 2005 I have suffered from unexplained depression and anxiety, overactive bladder, joint and muscle pain, fatigue, IBS, hand tremors, migraines, skin issues, night sweats, dizzy spells combined with sweat and the need to lay down, quickly depleting vision and many other issues. I have two children 5 years old and 3 years old. During my pregnancies I was healthier than ever!???! I have been tested for thyroid, lupus, and celiac, disease which were all negative. Its hard to find information on MTHFR with two mutations. I am taking 150mg SR of bupropion, and 1 mg of lorazepam each day. I have been weaning off these medications since August of 2014. I was taking 300mg of Bupropion and 4 mg of lorazepam when I began the weaning, I only weight around 100lbs and I have problems gaining weight and maintaining an healthy weight. I have a rash which I just discovered could be related to the adjustment of the Anxiety medication. I would like to be off all antidepressants and anti-anxiety meds; however, Ive been told maybe I should stay on the anxiety meds. Furthermore; I must figure which amount is right for me. I am a 41 year old stay at home mom.

    • Elizabeth says:

      Paula, some of those symptoms are very familiar, but dizziness stands out (vitiligo too, fatigue, etc.)–was a problem for so long for me. Simplest solution: no dairy. Milk protein (casein esp.) lurks in pills, in many other unlikely places, so need to read labels carefully, is called this-and-that caseinate and other names. (Dr. Lynch will know much more.) But intolerance for gluten often goes with dairy issues, so maybe worth a try? Helped me considerably.

    • Ann says:

      May I seriously suggest you get tested for Lyme disease. And make sure that you get the Igenex Lab test as the western blot test doesn’t show the co infections, which I have. And make sure that you have a well educated functional/integrative medicine md that’s well versed with the MTHFR gene variation testing.
      I am very ill because of being given, over time, many antibiotics and coming down with many infections. I now have a fungal overgrowth that the regular dr.’s don’t even consider because they say you have to have AIDS to be immunocompromised….well I am immunocompromised because I have parasites…Blastocystic Hominis and I also have Babesia FISH/B. Duncani (Lyme)….do you think these doctor’s even care…no! They treated me with such disrespect and turned their backs on me…..what is this world coming to? Keep in touch!

  • ursula says:

    Dr Ben
    I have an extensive hx of massive VTE. However, I am hetero for the following: MTHFR A1298C + rs147413, rs373964, rs484048, rs4846049 and my kids have MTHFR C677T. To make things more confusing I am homozygous for 16 SNP (including F11) and hetero for 54 others.
    I cannot seem to see a clear reason for the hx of VTE. If you have any insights please share.

  • Stevie Frame says:

    Dr. Ben,
    I have been trying for about a year now to find an answer to all my questions. My girlfriend has the A1298c deficiency. She was diagnosed as a child and now she is 18. The doctors haven’t been able to give her an answer. We live in West Virginia and as far as I’m concerned, no one here knows anything about her deficiency. For the past 4 weeks she hasn’t been able to keep any food down and most of the time her drinks come back up too. I am beyond lost and want nothing more than to find an answer to all of her problems.Your articles have helped me make more sense of what is going on and I thank you for posting them. If you could please contact me that would be great. I need an answer more than ever. Please and thank you

  • Karis says:

    Hi Dr. Lynch: I have read that onset of methylation issues can be with childbirth (Dr. Lawrence Wilson). My health seemed to go bad after a miscarriage in 1977 which necessitated a blood transfusion; or after a subsequent full-term birth in 1978. I am compound heterozygous for MTHFR C677T and MTHFR A1298C. I also show BHMT-04 as “not found.” Is this the BH4 you are referencing? Five other things were not found also. I am also compound heterozygous for COMT V158M and COMT H62H; also for CBS C699T and CBS A360A, and heterozygous for MTRR A664A. I am homozygous for MTRR A66G, VDR Taq, MAO A R297R, BHMT-02 and BHMT-08. The descriptions from Genetic Genie seem to fit quite well. I also tend to have paradoxical reactions to some things (caffeine, all thyroid supplementation), leading some alternative docs to say I have “reverse molecular spin.” (I was sexually violated at age 10 months, which of course did tremendous damage to my developing psyche and personality, cross-wiring of my brain, development of trust and bonding, etc.) Have struggled all my adult life with ADD (both hyperfocus and hyper-distractible), chronic fatigue, low serotonin, poor immunity, sleep issues, digestion and gut issues, fibromyalgia, ligamentous laxity, and lately physical anxiety symptoms (fluttering in the chest in the am). Standard protocols don’t tend to work on me as my body does weird things with so many things. My detox pathways are messed up too, as I have a redundant, loopy and torturous colon, so I have been leaking burning fluid out of my eyes for 10 years, and now my nose. My homeopath says there is a staph aureus infection in my left frontal sinus, so we are addressing that with drops. This is all very confusing and finding a good doc who understands these things is like finding a needle in a haystack. Do you see patients? My husband is from Bothell.

  • Dennis says:

    Hello Doctor, Please help. My wife of 68 years young has been diagnose with A1298C and C677t Hetro last year in February 2014 she had a stress test and than a doppler the Doctor told Her that She has One DVT over the old one from the year 2000 after a Bladder suspension. BUT she has 2 more DVTS in the other leg also She has the Lupus Gene.There has been no problems earlier in life and I am married ti Her for 33 Years. She has bad arthritis,some severe aches and pains in her body memerory loss some and She has good days and not so good days also on good days she over does it by walking shopping too much. Her Hematologist and cancer Doctor which She does not have cancer Not that we know of but He has Her on Warfin 8MG a day and I home test her with a meter and follows up with a blood test once or twice a year. The Doctor said that Her INR should be between 2.5 and 3.5 on account of the lupus gene, so far it has been around 2.5 T or Minus .2.What can you suggest that I can mention To Doctor that She should help HER with the pain digestive memory loss Please. She does not have Alhemerers just more aches and pains memory loss and walking also She is bending down some to walk. Please any suggestions


  • Dennis says:

    Hello Doctor, Do you Know of any Doctors in Oakland County Michigan That I can take Her Please

  • Dennis says:

    Doctor Thank You for the list of Doctors. Do you have any in or near Oakland County Michigan


    • Dr Lynch says:

      I am not sure – there are addresses there – you may be able to sort by state – should be able to.

      There is also this:

      • Paula says:

        Dr. Lynch,

        Thank you so much for all of your time and effort on research for MTHFR. All of your articles have been very informative. Do you have any helpful information for my story?

        paula January 29, 2015 at 1:31 pm # Reply
        I have been diagnosed with two mutations of the gene MTHFR: C677T and A1298C in the past month. My doctor immediately began a B12 shot (methylated version, of course), in which I get once a month. She also gave me 5-MTHF, I take this once a day. She said to avoid gluten, folic acid, sugars, and try to eat grass feed meat. I have started a gluten free diet; however, I also was diagnosed with vitiligo 2 years ago and I am confused about the Paleo and Autoimmune Disease Diet. Since 2005 I have suffered from unexplained depression and anxiety, overactive bladder, joint and muscle pain, fatigue, IBS, hand tremors, migraines, skin issues, night sweats, dizzy spells combined with sweat and the need to lay down, quickly depleting vision and many other issues. I have two children 5 years old and 3 years old. During my pregnancies I was healthier than ever!???! I have been tested for thyroid, lupus, and celiac, disease which were all negative. Its hard to find information on MTHFR with two mutations. I am taking 150mg SR of bupropion, and 1 mg of lorazepam each day. I have been weaning off these medications since August of 2014. I was taking 300mg of Bupropion and 4 mg of lorazepam when I began the weaning, I only weight around 100lbs and I have problems gaining weight and maintaining an healthy weight. I have a rash which I just discovered could be related to the adjustment of the Anxiety medication. I would like to be off all antidepressants and anti-anxiety meds; however, Ive been told maybe I should stay on the anxiety meds. Furthermore; I must figure which amount is right for me. I am a 41 year old stay at home mom.


        • Ann says:

          You need to get to either a Functional or Integrative Medicine MD.
          Have you had a Cyrex test to check for Leaky Gut? Sounds like you have this. So you have Candida and have you ever taking any antibiotics in your life?
          You need to more than likely heal your gut lining and eating more of an autoimmune paleo diet could help. Do you have Sarah Ballantyn’s Paleo approach diet book and her new cookbook. You can order from
          Have you ever been tested for Lyme and its’ co infections…Babesia and B. Duncani?
          Do you have any parasites in your colon like Blastocystis Hominis?
          Anxiety and Depression can happen if you were bit by a Tick. I had terrible anxiety growing up and am much better on the autoimmune paleo diet.
          Igenex labs can test for Lyme and the co infections….they do the most accurate testing. Apparently the Lyme test I had back in 1990 wasn’t good enough so it was missed.
          I don’t recall ever being bitten by a Tick So here’s a perfect example of someone getting a Lyme co infection without having the standard bull’s eye rash.
          Have you had any food allergy/sensitivity testing?
          The list goes on….more and more doctors now are understanding too how genomics/genetics plays in our health….unfortunately for me a little to late.

  • Kris says:

    I’m not sure if this is still an active site, but I will post anyway. I was just told over the phone that I have a “mutated MTHFR A gene” but not a mutated C. The information was relayed by my OBGYN who ran my blood for fertility purposes. She told me only having the mutated A is not a concern. After my own research tonight, I have many questions. Does she mean that I am A homozygous? Is there a fertility concern? I will consult my doctor for more info but was hoping for a few answers on here as well. Thank you.

    • Dr Lynch says:

      Hi Kris –

      It’s not that cut and dry – but yes – A is typically not that bad.

      And she should have been clear if you have one A or two. Not clear enough. Good catch.

      I really want you to read this:

      It also relates to fertility concerns – and do note the husband/partner should follow the same recommendations as the woman.

      Good luck and wish you well and a healthy successful pregnancy and little one!

      • Ann says:

        I am curious how drinking alcohol and smoking while a baby is developing in the womb is affected, especially knowing that I have one of the gene variations/mutations A1298C.
        Dr. Lynch can you answer?

        • Heather says:

          Obviously you have no brain if you would do this to your baby you are carrying in the womb. There are so many woman struggling to get pregnant and would never think of doing such an idiotic thing to their baby. If you can’t stop drinking and smoking for 9 months , and A1298C is the least of your concern right now.
          Oh my gosh, you are really curious ? REALLY??
          Your sick. A freaking class act.

          • Ann says:

            I was referring to my mother who consumed 2 martini’s a day and smoked while I was in her womb. This was back in 1958.
            I agree with you….I have many genetic defects and am even missing the glutathione gene.
            My mother really doesn’t think too well and has her own health issues that I can’t bear to even get into.
            I had a miserable childhood…that’s all I can say..but am grateful that I did have a mother and father. Some children don’t even get this in life.
            We live in a sinful, non perfect world…where mistakes are made everyday. I am most grateful for my faith that keeps me going everyday…otherwise I would have no hope for the future.
            I am very sick and it all began in my mother’s womb…my mother treated me so poorly and she continues to berate and belittle me.
            I have lyme disease, many MTHFR defects, anxiety, I drank to cope with the anxiety that came from living in my mothers environment, genetic defects, autoimmune disease, candida overgrowth. I am very sad with how things turned out for me. It’s so amazing how things work for some and not others.
            Thank you for listening.

          • Heather says:

            There was no reply to your comment directly… so I had to repy to my comment.
            I am so sorry. I took your question for what it was. It seemed you were asking for yourself, not as survivor, I *assumed* you were asking for yourself and I apologize deeply.
            I have read so many woman stories on here that are heart wrenching how they have lost their babies, can not get pregnant and I honestly didnt see your question for anything than it was at face value. A common mistake when reading and interpreting what someone is saying.
            I am sorry. I hope you accept my apologies. My mother was/is alot like your also. It is a hard pill to swallow. ( so to speak )

  • Joy says:

    Hello Dr Ben
    I have homozygous 1298 mutation and severe chronic fatigue. My ammonia levels were tested and appear in the normal range. However when I tried to start supplementing with a tiny amount of methylcobalamin or methylfolate I become jittery. My doctor insists that I need b vitamin supplementation. I also have a history of Lyme disease. How should I proceed?

  • Patricia says:

    Just got my 23andme results and ran them through I’m heterozygous for A1298C so no big deal, right? But I’m homozygous for the following (there are a few others but I just stuck with the ones I think I’ve heard mentioned on this site, on videos):

    CBS A360A rs1801181
    COMT H62H rs769224
    COMT V158M rs4680
    MAO A R297R rs6323
    TCN2 C766G rs1801198
    GAD1 rs769407
    GAD1 rs3791851
    GAD1 rs701492

    Just wondering if I should be concerned with any of the mutations above. I’ve had mild depression, mild chronic fatigue since my teens; and digestive issues since my 20s (I’m now 51). Serum B12 was >1200 last time it was checked (about 12 years ago!); would the TCN2 have something to do with the B12? Should I try adenosylcobalamin or liposomal B12?

    I function pretty normally day to day but would love to have more energy, feel more ‘positive’, better digestion. Have been using Monolaurin and Interfase Plus, fermented veggies, soil probiotics for my gut and have been eating primal/paleo for several years now. NO grains, dairy, soy, sugar. Exercise daily… prayer/meditation… removed environmental hazards (wifi, amalgams, etc)… sleep like a rock 8-9 hours night!!… but still a bit tired in the morning.I actually started supping with methylfolate and methylcobalamin before I got my results back (Metafolin L-5-MTHF: 1200mcg; Methylcobalamin: 900mcg) and haven’t had any adverse reactions whatsoever… but no improvements either. Been to more DTCMs, NDs than I can remember over the past several years to get to the root of these issues with very little improvement. Every one of them said I’m a ‘puzzle’ they can’t solve… which is how I wound up here! 😉

    I’ve spent $$$ already… don’t know what I should try next…Thyroid panel? Adenosylcobalamin? Thoughts? Suggestions?

    • Ann says:

      Have you had any false positive ANA’s? Have you been checked for Lyme disease and its co infections by Ignex? I never remember a tick bite but I have the co infections and am being tested for Borrelia.
      I had chronic fatigue back when I had and still have false positive ANA blood tests. Iwas diagnosed with EBV, Chronic fatigue and Cytomegalovirus back in 1992. I had candida overgrowth which I attribute to chronic over prescribing of antibiotics with the doctor’s back then never telling me to take probiotics. I’ve had many viruses that my immune system can’t fight off because I have a Lyme co infection….Babesis and B. Duncani.
      Something you might look into too! I am heterozygous for the A1298C too but have some of the other homozygous gene variations. I am missing the glutathione gene totally in the liver and kidneys according to a detoxigenomic profile done on me 4 years ago by genova which is now Metagenics or Metametrix labs,,,I forget.

    • Carol Sweeney says:

      Hi Patricia,
      I am curious as to how you received medical results through I use that site for my cultural background but was under the impression that you cannot obtain medical information anymore due to the FDA stepping in and blocking from giving out genetic information. I do not know how long ago you obtained your results but are one of the lucky ones for that information.

      Would love to now fi others out there can direct me toward testing for other genetic profiles. 🙂

      • Ann says:

        A doctor has to get the results now…as before gave them to us…then we could have merge them together as well as genetic genie for a small fee. So you need to get a naturopath, MD, etc. to view them and then merge them together for you.

        • Lynn_M says:

          Carol and Ann,

          You are both mistaken. Yes, the FDA stopped 23andMe from providing the medical reports, which gave an descriptive interpretation of some of the genomic results. I found them to often be misleading and of dubious value anyway. But you can still access the genetic data that was the basis for the medical reports.

          What 23andMe still provides to their customers is called the raw data. There is an explanation on the 23andMe website. The raw data is accessible by clicking on the down arrow next to the customer name and then clicking on Browse Raw Data in the pop-up menu.

          SNP = single nucleotide polymorphism. SNPs are components of genes. What the raw data tells you, for each SNP, is the gene name, the rs#, the allele possibilities, and your particular allele results. Once in the Browse Raw Data screen, you can search for individual SNP rs# (e.g. rs1801133 for MTHFR C677, rs1801131 for MTHFR A1298C), search on a gene name (e.g. MTHFR, and get 58 different SNPs listed (on v.3)), or get a complete download of the almost million SNPs.

          To make use of the Raw Data information, you can either (1) become knowledgable enough to know what genes or SNPs to search on, or (2) use an interpretive service such as Genetic Genie, the variant report available at, or Livewello. All interpretive servces require that you download your 23andMe raw data to their website and give instructions on how to do that. Genetic Genie gives the data results for about 30 methylation and 30 detox SNPs, plus a descriptive interpretation of those results taken from Dr. Amy Yasko’s work.

          MTHFRSupport and LIvewello give data results for about 300 SNPs, plus links to SNPedia for most of the SNPs. SNPedia provides links to research about each SNP. Unfortunately 23andMe does not tell you what the risk allele is, whereas the interpretive services do. I look at the population data at SNPedia and if an allele is in a definite minority, I figure it’s the risk allele. I also look at research articles. Determination of the risk allele is not cut and dry and what the interpretive services say is the risk allele isn’t always right.

          You do not need a doctor to get the raw data and neither is one needed to “merge” anything. I suspect there aren’t many doctors that know much of anything about SNPs anyway. If you educate yourself, you can find out information about any of the roughly 600,000 SNPs that 23andMe now tests for, if there is published research available for that SNP. You’re not limited to the small number of SNPs and genes that the interpretive services give info on.

          Carol, interpreting 23andMe raw data results does require an initial learning curve, but if you’re willing to do the work, I don’t think any other company provides data on so many SNPs for such a low price.

      • Patricia says:

        Hi Carol,
        I’m Canadian, and we still get access to the health reports… but the MTHFR info is in the ‘raw data’ (which everyone gets), not in the health reports. In 23andme, click on your name, top right, and choose ‘Browse Raw Data’; then click the ‘Download’ button. You then upload that file to a site like and they provide you with a report with all your MTHFR info.

        Hope that helps! 😉

  • Patricia says:

    Oh I should add I was also homozygous for:
    IFIH1 (HLA) rs1990760
    CTLA4 rs231775
    FOXE1 rs1867277

    … which are all thyroid related, I believe…

  • Ann says:

    Its ok…I was just curious what other’s would say today about what women did back then when they were with child….I got my answer.
    My mother is now paying for what she did to me….she feels terrible because my husband whom she loves is having to care for me.

  • laura black says:

    DR BEN,
    I feel AWFUL and nothing seems to help. I eat GF, no dairy or soy or grains or sugar. I eat tons of leafy greens and broccoli, etc. Lean meats. I have gotten my gut cleaned up (I think)…. I can’t find a doc anywhere near who gets this stuff. Should I avoid SULPHUR FOODS? WHat should I supplement with? If I send in my info can you create a protocol? I feel like I don’t detox metals well. But never tested for it… THANK YOU!!!!! I never even felt bad until 10 years ago. I think my adrenals are involved too.

    I have hetero A1298C but also snps:
    COMT V158M AG +/-
    COMT H62H CT +/-
    VDR Bsm CT +/-
    VDR Taq AG +/-
    MAO-A r297R GT +/-
    BHMT 08 CT +/-
    CBS C699T AG +/-

    MTRR H595Y
    BHMT 04
    CBS A360A
    CBS N212N
    SHMT1 C1420T

    • Dr Lynch says:

      hi Laura –

      Please work with a physician here –

      Your genetics above do not appear to be so bad.

      There are more likely some epigenetic issues going on – and this requires a great doc to resolve.

      • laura says:

        thank you. I did look on your list of physicians. They are 3+ hours from me so was hoping there was another way. *sigh* I am so disappointed more docs aren’t following your lead here…. WHat is an epigenetic issue??

        Bought the Berkey water filter system and LOVE it.

        • Dr Lynch says:

          Laura –

          Keep checking back on the referral list – the directory is in its infant stages – it’s going to blow up over this year.

          Three hour drive is not that much if the doctor is excellent 🙂

          Glad you are enjoying the Berkey! I love ours also – water tastes amazing.

          Only thing – I wish it was easier to fill up. Trying to work that out still.

          • laura says:

            thank you. I guess you are right. Are they good if they are on your list? I will keep checking too. I have a naturopath I’m going to see today. Jillian Teta in WInston Salem, NC…. Maybe it is that I need to detox my system. I did a flu vaccine this year (I KNOW STOOPID!) and everything went south. It was like the last drop in the glass I guess. Add menopause and stress and a leaky gut and I guess anyone would feel like hell. KEEP DOING WHAT YOU’RE DOING!!!! thank God for your work for some many people.

    • laura says:

      also do you think sulphur foods could be a trigger for me? I kinda feel like at this point anything that could trigger should be looked at… thx I do not take any methyl B12 or folate. should I? could it be that easy? (ha)

    • Ann says:

      You might give my doctor a call, Dr. Micheal E. Rosenbaum, he’s in San Rafael, CA. You may have an issue with eliminating toxins from your body and there’s a test for this…seriously. Dr. Rosenbaum is an Integrative and Functional Medicine MD. You can google him…he’s pretty bright!

      • Joyce says:

        What is the test called? I have been to an integrative MD here in NJ but he did not test for detox or toxins.


        • Ann says:

          I am very ill with advance hyphal candida that wasn’t treated properly from the beginning and I unknowingly had Lyme disease and that’s why I couldn’t fight it off. Plus being given too many antibiotics didn’t help either with keeping the yeast in check. It has been a nightmare and western medicine basically has hurt me…oh well nothing’s perfect in this life. I just wish they would educate themselves more and would have told me 20+ years ago to take probiotics…I am just unlucky.
          I will try and find out the name of that test as I am confined to a chair right now as I have extreme dizziness.

          • Joyce says:

            Sorry to hear that. I have a feeling I have a Candida issue as well but when I was tested with a blood test I was told I didn’t. The chronic fatigue, anxiety and muscle twitches have been persistent and no one has been able to find the root cause in order to treat them properly, though Lyme can be involved in all these symptoms. Having the MTHFR homozygous A1298C probably makes it a lot harder on the system to eradicate any pathogens. My adrenal glands have been weakened by all of this too. I’m wondering where to start in terms of detox and mitochondrial function. I cannot take any methylated B supplements as they cause the jitters and insomnia.

            Will be having other genes tested soon…COMT etc. to find out if neurotransmitters are working properly, which I doubt.

            Also had an amino acids test done as recommended by Dr. Lynch. My ammonia levels were “normal” so not sure where in the methylation cycle I may sluggish.

        • Ann says:

          I sent an email to my MD to ask the name of the test.
          Also an MD down in Los Angeles told me that one of the gene mutations/enzymes in the liver (MTRR) won’t work if there’s candida present. I am homozygous with this mutation from the testing/merging with the results.
          You can have a blood test that will reveal systemic candida…I had it done by Quest Labs.

        • Ann says:

          My western blots were negative for Borrelia and the same with Igenex.
          On the Igenex labs I have Lyme co infections Babesia/B. Duncani.
          My blood was sent back to Pennsylvania. …Advanced Laboratory for a 2 month blood culture to see if the Borrelia shows up.
          They think I still may have the Borrelia bacteria but we have to wait to see what the culture shows.
          Candida will show up on stool specimens. And if it is systemic it will show up on a blood test. Quest Labs showed that mine was systemic…pretty advanced.
          Maybe getting a stool test would help? The choice is yours of course.

          • Joyce says:


            My Lyme was diagnosed back in 2004 but was not treated properly. Have you heard of biofilms? This is where Lyme and coinfections hide in the body making it difficult for your body to fight it and difficult to detect on any of the labs.
            Check out Dr. Klinghart for more info on that. May be causing some neurological damage.

      • laura says:

        Thank you. I am in Greensboro NC…. I have an appt with a naturopath today and I hope she can help me… would your doc help long distance?

    • Heather says:

      It is my understanding that having the mutations , compound heterozygous and compound homozygous , greatly reduces your body ability to get rid of toxins.
      I have compound hetero and my son has compound homozygous.
      My theory, which has no scientific evidence at all, but what I think —- , is that the older we get , the more and more toxins we have built up in our systems and the sicker we become.
      My son being young and not exposed to, too many things even I was exposed to at his age ( mercury fillings , for just one example ) he’s not sick but knowing he has this mutation at his age is about learning how to eat clean and adopting a way of life for a lifetime.
      I have not figured out how to completely detox my system , my whole system or if there is even a way to do that ?
      If anyone knows, please share. I’m sure it has to more in depth than a super cleanse …?

      Good doctors are extremely hard to find.
      Not enough Dr. Lynch’s to go around.

      • Ann says:

        I had a specific blood test done by my Integrative Medicine MD (don’t remember the name of it) but I was told that have the inability to detox molds, toxins etc. This is different than the MTHFR. I am not homozygous either for the MTHFR A1298C, but Heterozygous….I have other gene mutations that may be a factor too. I am missing the glutathione gene in the liver and kidneys from both parents which doesn’t allow me to detoxify well…I just found this out 6 years ago from a Detoxigenomic profile test done on me by Metagenics labs.
        I did drink wine excessively due to having major anxiety issues that didn’t help as I became deficient in B vitamins and glutathione. I have to put glutathione cream on my arms every day to get sulphur into my system as I am allergic to garlic.
        I believe the anxiety came from being around an anxious mother plus being bitten by a tick and having a poor diet back in the 60’s and 70’s (corn syrup on pancakes), grains (I have one of the HLA DQ2 genes where I have to stay away from wheat and gluten). Most northern european’s have this gene.

      • laura says:

        I feel like that could be my issue actually. You know how sometimes you “know” stuff? I had the flu vaccine this year and right after that all this was worse…. plus A LOT of stress. My mom died, my cousin died, my friend got stage 4 breast cancer, etc… I had cranial sacral work yesterday and I SWEAR by this to reduce anxiety. But I don’t sleep well anymore and THAT’S the biggest issue. When you don’t sleep, all kinds of things go wrong. I get terrible anxiety that wakes me up once I do fall off to sleep. I get weird neuro things like twitchy muscles, burning skin, clammy, and my stomach is a mess…. sigh… thank you for the help!!

        • Ann says:

          You need to get a complete workup by a functional and Integrative medicine md. Sounds like you have an adrenal gland issue as well.
          You need to do a saliva test…this measures how much cortisol is being produced by the adrenals.
          Anytime you have anxiety you can possibly have chronic adrenal insufficiency.
          Chronic stress will do a number on your gut because the chronic levels of cortisol in your blood can lead to a leaky gut.
          You need to learn mindfulness based meditation so when a stressful event happens you can meditate right then to reduce your stress thus the cortisol levels.
          God not intend on us having the amounts of stress we do on a daily basis…this isn’t normal. Its part of living in this imperfect sinful world.
          So….please take care of yourself…if you don’t address this like I didn’t (I didn’t understand what was going on) you will end up a real mess.
          Please believe me on this. Cut out any adrenal stimulants like coffee, nicotine, alcohol and a high carb diet as well as any sugar or high glycemic foods. Stay away from wheat and gluten, if you can. There are tests to check for gluten and wheat sensitivities too. Being on a somewhat Autoimmune Paleo diet could help you. And eating bone broths can be very soothing to the gut lining.
          You have some work to do…and if you do the work you can heal yourself.
          Sarah Ballantyne has a book called the Autoimmune Paleo Diet and she has a nice cookbook too. I would talk to0 with a well qualified and trusted MD (functional/Integrative) not your regular PCP. They haven’t been trained in this…they only know how to give you drugs…this isn’t always what a person needs. Your body can heal itself if given the right diet, supplements, testing and rest.

    • Ann says:

      Do you have candida? This can cause having a metal taste in the mouth.

      • laura says:

        I think I do have some candida and will be goig to naturopath today….
        thank you!

        • Ann says:

          Wonderful Laura! A stool test can show if you have Candida. And getting a leaky gut test by Cyrex Labs would be beneficial.
          Most people have gluten and wheat sensitivities too and this irritates the gut lining causing leaky gut and autoimmune diseases.
          Perhaps getting the test and having the website merge your genetic variations for you would help you to find out if you have the HLADQ2 or DQ8 gene for gluten and wheat sensitivities. There’s a blood test too your functional medicine md can order to check this…but maybe it might not be covered by your insurance.
          You can call Dr. Rosenbaum’s office to see if they can do a SKYPE visit…most of them do if you live afar!
          He’s helping me with the Lyme as well as the other things…he’s learning more about the MTHFR genes too!

        • Ann says:

          You check to see if you have Lyme disease….i had no idea i had it as I never had the hallmark “Bull’s eye rash” If you have candida and never took antibiotics and aren’t getting rid of the candida you could have Lyme disease.

  • Patricia says:

    Hello Dr. Lynch,

    I’m heterozygous for MTHFR A1298C and MTHFR 03 P39P.

    I’m also homozygous/heterozygous for several COMT, CBS, MAO A, MTR, MTRR, GAD1 SNPs. (among others…)

    Are there specific SNPs within each of the categories above that are more harmful than others for those with heterozygous A1298C (or 03 P39P)?

    For example, my results have 16 different variants for the COMT SNP alone! Which one(s) is/are the dangerous one(s)?

    Love your site and podcasts! Thanks for all your hard work and research. I’m learning so much!!

  • paula says:

    Dr Lynch,
    I have been diagnosed with two mutations of the gene MTHFR: C677T and A1298C in the past month. My doctor immediately began a B12 shot (methylated version, of course), in which I get once a month. She also gave me 5-MTHF, I take this once a day. She said to avoid gluten, folic acid, sugars, and try to eat grass feed meat. I have started a gluten free diet; however, I also was diagnosed with vitiligo 2 years ago and I am confused about the Paleo and Autoimmune Disease Diet. Since 2005 I have suffered from unexplained depression and anxiety, overactive bladder, joint and muscle pain, fatigue, IBS, hand tremors, migraines, skin issues, night sweats, dizzy spells combined with sweat and the need to lay down, quickly depleting vision and many other issues. I have two children 5 years old and 3 years old. During my pregnancies I was healthier than ever!???! I have been tested for thyroid, lupus, and celiac, disease which were all negative. Its hard to find information on MTHFR with two mutations. I am taking 150mg SR of bupropion, and 1 mg of lorazepam each day. I have been weaning off these medications since August of 2014. I was taking 300mg of Bupropion and 4 mg of lorazepam when I began the weaning, I only weight around 100lbs and I have problems gaining weight and maintaining an healthy weight. I have had a rash since September 2014, which I just discovered could be related to the adjustment of the Anxiety medication. I would like to be off all antidepressants and anti-anxiety meds; however, Ive been told maybe I should stay on the anxiety meds. Furthermore; I must figure which amount is right for me. I am a 41 year old stay at home mom. I need to know more about these mutations and the autoimmune disease.

  • Ann says:

    Paula have you had your Vit D levels checked? Some of your symptoms might be related. And also you might look into also Lyme disease. I have the co infections that have caused a depressed immune system (Babesia-B. Duncani) as well as many other issues.

    • Paula says:

      Thanks Ann,
      I have had my Vit D levels checked and the doctor said it was low, but did not suggest any vitamin or supplement. I haven’t been check for Lyme Disease, but i will look into it. I have an appointment with MTHFR MD in Houston, TX next month.

  • Renae says:

    Hi Dr Lynch,

    I am a 36 year old mother of eight, just coming to the end of a very difficult year, one that began happily with the birth of our 8th child. Only days after the birth, I felt my energy draining away with the ebbing hormones. I pushed on because I had to, but was deeply fatigued and tired all the time. I was under the care of a good natropath and didn’t think there was anything more to be done. Then at about 8 weeks post natal, I had my first sleepless night…I was so tired but could not nod off to sleep! It was the strangest thing. I haven’t ever had trouble sleeping before, even with getting up to babies in the night for the last 16 years.

    This continued happening on and off, a few nights here and there until about 4 months post natal. Now I could barely sleep AT ALL! Only about 2 hours a night for 11 days in a row. It was horrific. I went to a GP…no answers there, only a blood test for thyroid, which came back normal, and sleeping pills. I went to my natropath and over the next few dark and now foggy months we tried various things to improve my sleep, including progesterone and melatonin. We had varying degrees of success.

    But it was not until 9 months post natal that something REALLY worked. Hydroxocobalamin injections. WOW! I walked out of the clinic with some energy in my step. For the first time since the birth I felt almost normal. And that night, I slept. Deep, delicious sleep. The next day, however, I was once again my terrible, exhausted, stuck-to-the-couch self. Slowly, with weekly injections, I began regaining my quality of life, and for that I am very thankful.

    Only then did my natropath decide to run a gene test for mthfr. It came back as homozygous 1298. Now, together with fornightly b12 injections, I am taking daily folate as Metafolin, L-5-MTHF at 300mcg. I am also taking Ferrasorb by Thorne Research, which contains 25 mcg of methylcobalamin. My energy levels are definitely improving, though my sleep is still not always fantastic. I would probably have at least one really bad night per week, when not even the valerian will help. Some nights are great, some I wake for no reason and sometimes have difficulty getting to sleep or back to sleep. My natropath wants me to start with methylcobalamin injections as well. I guess we will see how it all goes. I am beginning to see what a complicated issue this is and treatment is far from straight forward!

    I plan to have my husband gene tested so we have some idea about the gene combinations our children could possibly have. I have also passed some information on to my sisters, one who has diabetes type 1 and the other, who has epileptic seizures. There is a family history of insomnia, some depression, hypothyroid and hyperthyroid, amongst other things.

    Unfortunately, it is very difficult to find information about treatment for those with homozygous 1298. If you have any more information to pass on or know where I can find it, I would be very grateful for your help.

    Thankyou for your very informative website.

  • Patricia says:

    Hello Dr. Lynch,

    Severe eczema sufferer here (along with insomnia, anxiety, candida, depression and a few other lifelong lovelies for which my doctors couldn’t quite ever figure out the source.) I am homozygous for MTHFR 1298 (677 is normal) and CBS A360A. I am heterozygous for COMT V158M, COMT H62H, VDR Bsm, VDR Taq, MAO-A R297R, MTRR H595Y, MTRR K350A and MTRR R415T. There may be other mutations, but that’s all the information I have at the moment. I’m in NY, so most in-home tests are illegal here. I have my 23 and me results from a few years ago when I lived in SC, and I fed those into Gene Genie. I’ve been researching on my own and trying to put together a supplement list.

    My questions mainly concern discrepancies between the recommendations given by you, Dr. Amy Yasko and NutraHacker. For someone with my profile, is folic acid a no-no? What about folinic acid and folate? Dr. Yasko’s multi contain all of them, but I thought I’d figured out I shouldn’t take those partcular types of B12. Shouldn’t I stick to hydroxocobalamin and/or adenosyl? Is P-5-P ok? It looks like I should stay away from SAMe and methyl B12 (methyl donors in general?), but phosphatidyl serine and choline are good, as are zinc, TMG and CoQ10? Goodness, my eyes are glazing over.

    I know you’re inundated with requests, so any help or pointers in the right direction would be so very appreciated. If anyone reading this has any recommendations for a functional medicine practitioner familiar with all of this in my area, please reply! Thank you so much for your research and this site.

  • Julie evans says:

    Dr. Ben New to all of this, just joined your site and ordered the genetic test you recommend. I have been sick for over 15 years with odd symptoms and recently diagnosed with Lyme. I have been receiving IV vitamin treatments followed by glutathione push from my neurologist Dr. David Perlmutter. Protocol is :

    1. multitrace-5(zinc,copper,manganese,chromium,selenium) – 1ml dose
    2. Methylcobalimin 1mg/1ml – 1ml dose
    3. vitamin b complex 100 (thiamine 100mg,riboflavin 2mg,pyridoxine 2mg,dexpanthenol 2mg, niacinamide 100mg) -1ml dose
    4. Dexpanthenol 250mg- 1ml dose
    5.pyridoxine 100mg- 1ml dose
    6. sodium bicarbonate 8.4% 1meg/ml – 5ml dose
    7. magnesium chloride 200mg/ml- 2000 mg- 10 ml dose
    8.calcium gluconate 10% .465 meg/ml-5ml dose
    9. Asorbic acid 500mg/ml 15g -30 ml

    Mixed in sterile water or saline. I seem to have trouble during infusions at times. I get a flush feeling at times but my biggest worry is a feeling like my blood sugar is crashing?? This past time the internal shaking was bad followed by a horrible head ache that lasted over 12 hours and I noticed I had blood vessels rupture on my face?? Do you have any idea what might be causing this? Thank you!

    Although I am receiving these treatments and doing at home B12 and Bcomplex injections I am deficient in B12, selenium, serine and vitamin e. Borderline deficient in Vit B1,Manganese, Vit B6, calcium, pantothenate, glutathione, lipoic acid and inositol?? Confused how I can be deficient in things I’m supplimenting IV and muscular. Blood levels show above normal amounts but spectracell blood test shows abnormal deficiency? Thank you for your knowledge I am getting no where with my doctors as far as my symptoms.

  • Renae says:

    Hi Dr Lynch,

    I posted my story a week ago. Since then I have had a whole bad week of sleeps…not fun when you are looking after a large family! I stopped the methylfolate 4 or 5 days ago when my sleep started regressing (I had been taking 300mcg daily for about 6 weeks). I have also been experiencing tingles in my hands and feet – would this and the return of my insomnia be over-methylation symptoms?

    The methylfolate has definitely helped with energy levels, but getting back consistent quality sleep is still a mystery and an all-consuming quest.

    I don’t know whether I should have stopped the methylfolate or not! Any help on this would be greatly appreciated.

  • Vandy says:

    Hi. I was diagnosed with compound heterozygous mthfr after recurrent miscarriages. How do I medically manage this condition. ? I am taking b12 sublinguilly but still notice hand tremors and other symptoms like brain fog memory loss irritability and anxiety especially during my periods. Please give your guidance on what else I should be supplementing with.

  • Ana Hunsicker says:

    Dr. Ben, please help! I am compound hetero, my brain couldnt be any more compromised! .. I have been doing supps a couple months now, and feel as though i am still not making a brain/body connection! I am so frustrated! 🙁 … I would just LOVE to see a ‘sample’ or log of some sort, list from AM to PM as to how they would be taken, .. Its hard for my brain to decipher any other way! .. Its just too complicated!… I think i have been taking things in a non beneficial way, since i’m just not feeling any better .. I think a simple sample of am to pm would help me tremendously!!! Thank you So Much!! Ana Hunsicker 🙂

  • Nicole says:

    Hi Dr Ben Lynch,

    I am homozygous for the 1298 mutation and I was just wondering why I can’t use the same protocol that you for the 677 mutation? Both homozygous 1298 and heterozygous or homozygous 677 mutation result in the reduce function of the MTHFR enzyme, which therefore effects a person’s ability to methylate and hence detox. So wouldn’t the same supplements that help people with 677 to methylate properly and detox, help people that are homo. for 1298?

    Could you please clear this up for me?

  • Trinket W. says:

    Hi, I am so confused with everything that seems to be going on with my body. It is really making my life suck to be honest. I suffer from migraines, which I thought would be menstrual migraines due to when they happen, fatigue, restlessness, extreme brain fog, and very extreme memory loss. My husband would list 5 things to get from the store and I would only remember the last 2 especially if someone talks to me before I can go get those items. I also fumble with my words a lot. I honestly feel like I sound like a complete idiot while talking sometimes. It seems as though my brain and mouth don’t communicate with each other. It is so frustrating. It’s putting a strain on my marriage.

    My blood work shows that I have MTHFR A129C A/C. My Dr. prescribed
    L-Methylfolate. I started taking it daily and ended up with a slight headache that lasted every day. So he told me to start taking it every other day for a while then continue with it daily. He also said it would probably take about a year for it to really kick in and that’s when I would notice a difference. I also have a B-12 deficiency and a vitamin D deficiency. Nothing really low, so we just watch it. My blood pressure has been borderline for the past few months as well. He is also checking my Thyroid levels. He felt my throat and said that the right side was swollen and we will see what the levels were. I have my blood work but honestly have no clue what I am looking at.
    NOW, I have Essure. Essure is the Nickel coils that contain PET fibers that are inserted into the Fallopian tubes to prevent pregnancy. I have read, on here somewhere I believe, that there could possibly be a link between the two. Is that possible?
    I am so tired of feeling this way. I want my life back.
    Does any of this sound right to you? Should I have my children tested for MTHFR?
    Thank you so much for your time.

    • Dr Lynch says:

      Trinket –

      Sorry – but your doctor is wrong.

      Methylfolate kicks in FAST. Very fast.

      Please read this:

      Also watch:

    • Sierra Griffin says:

      I have many of the same issues as you: hetero A1298C SNP, brain fog, low B12 and low D. Thankfully the only time I get migraines is when I take too many methyl donors (methylfolate and methylB12).
      Your brain fog is likely due to low B12. The standard range many doctors use for B12 is too broad. If B12 is below 400, brain damage can occur. I was having severe brain fog earlier this year and my B12 was 300-500 for the past few years. I was also taking a mineral supplement with Copper and that can cause brain fog. Once I discontinued that, my brain fog was substantially reduced. Now that I’m supplementing with B12, it is almost gone. It was a struggle to tolerate methylB12 since I got overmethylated (nausea, anxiety, headache). I found a doctor on this website that is helping me add the right supplements in the right order. There are other forms of B12 besides methylB12 and the toxic cyanoB12 (my Dr has me using hydroxoB12 since my blood pressure runs low). I still have to titrate up slowly since it can cause overmethylation symptoms (even though it doesn’t have methyl donors, B12 pushes methylation pathway); Niacin is a great rescue drug.
      I am using Dr Dane Buxbaum in AZ; he does phone consults so you can probably use him in any state. He charges a one-time fee that includes all follow-up appointments. His website has a discount link to save $20 on 23andme genetic test, which I recommend obtaining ASAP since he can’t help much without looking at your genetics. On his new-patient paper work, be sure to write down all your symptoms, including when they started, and if anything makes them worse or better (esp. supplements and diet changes).
      I looked up whether or not Nickel can cause brain fog since you have a Nickel IUD and did find a site by a Dr L Wilson, saying it’s neurotoxic, but didn’t see much else. Do you feel the brain fog correlates with when you had Essure placed? His website does mention Aluminum toxicity causing brain fog. Dr Buxbaum does treat heavy metal toxicity too.
      Good luck!

  • Jodie says:

    Hello. I have stumbled upon your website researching elevated b12 levels. I recently had blood work done through wellness offered by my employer and opted to have my B12 levels checked because I have been fatigued. I was expecting to be deficient but instead it came back at 1301. I do not supplement with B12 so was surprised that it was so high. The only supplement I take is biotin due to hair loss caused by medication I take for rheumatoid arthritis. I went to my pcp and her suggestion was to stop the biotin and retest in a couple of months. I since have been researching elevated B12 levels and it is scary what it can mean. In my research, I have discovered that an elevated level can sometimes a B12 deficiency. Then I found your website and I was shocked because my daughter, who suffered from miscarriages, was diagnosed with having mthfr however I do not know anymore than that. I do know her doctor put her on some medication and she recently delivered a healthy baby girl 2 months ago. I now understand that I should be tested. Forgive my ignorance but what kind of doctor should I go to? I live in Wyoming and do not see a doctor that is knowledgeable in this in my area. I want to address this issue and resolve my elevated b12 problem. What kind of test should I ask for? Please help. I have many of the symptoms of having a mthfr mutation and want to address this. Thank you in advance for any advice/suggestions.

    • Susan Hildebran says:

      Hi Jodie, You might want to start reading about how those with MTHFR can not use the folic acid that is in all enriched foods. It blocks the folate receptors so the blood B12 is high, but the tissue B12 is low, which is what your blood work is indicating. You need to avoid manufactured foods, especially those containing folic acid. Avoid folic acid in everything, especially supplements. There are other forms of B12 that are more available to your body. The best test for a lot of information is to do 23&Me for $99, then get the raw results interpreted by another site that deals with MTHFR. Meanwhile, eat as organically and as fresh as possible and read about MTHFR. Good luck!

      • Sheri says:

        Your answer interested me because I just had blood work done and I have extremely elevated blood B12 levels but I have not eaten prepackaged foods or any folic acid for a long time. I do have celiac (off gluten 6 years) plus other autoimmune disease and one of the symptoms of autoimmune hepatitis is elevated B12. I am going to be tested this week for antibodies from the liver. So I will see if I have yet another autoimmune disease.
        1288 Golotranscobalamin,
        >2000 Cyanocobalamin
        Leptin 45.32
        Adiponectin 7.4
        Folic Acid 18.31 in normal range
        I’m currently living in the Ukraine and all blood tests are cheap. So if anyone has suggested blood tests to take to get to the cause of all my autoimmune issues, Please suggest!
        I am heterozygous 1298 / 677
        I eat Paleo and feel good but want to reverse my Hashimoto’s and stop other autoimmune issues. I’ve been diagnosed with 5 autoimmune diseases over my lifetime. Some have reversed but I feel like an arcade game. I wack one down and another pops up.
        Lupus, fibromyalgia, Hypoglycemia, insulin resistance and Hashimotos.

      • Susan Hildebran says:

        Sheri, have you had the genetic tests done as with 23andMe to test for other SNPs beyond the MTHFR? That might give you a more complete picture of what you are likely to be dealing with. Are you supplementing with any B12, perhaps a form that you can not use? B12 can be high in the blood but low in the tissues, just like folate. Rereading my answer above, I misspoke. The folate receptors being blocked give high folate in the blood, not high B12. Sorry, I need to reread before submitting. Now how to fix it?

        • Sheri says:

          Yes I’ve had 23 and me done. I do take hydroxy and adenosyl B12 and methyl folate. Any suggested lab tests?
          I’m reading allergies could elevate B12. Im allergic to almost everything. I do watch my diet but I’m probably not eliminating everything Im reacting to. My guess is leaky gut could be affecting me. I don’t produce enough hydraclauric acid either. I could have complete allergy testing don here. 90 foods for approx $50.00 USD. I wonder if that might be the answer!

          • Susan Hildebran says:

            Sheri, Leaky gut is a good place to start fixing yourself. Getting the food allergy testing might reveal some surprises to avoid. If you have a short list of safe foods, you might want to stick to that for awhile to give your body a chance to get caught up with the detoxing. Another question would be whether or not your high B12 is just in the blood or in the tissues too. I believe that there is an RBC tissue test that tells you what the tissue levels are for folate and B12, as opposed to what is in the blood. If other minerals can be tested for tissue levels, that may be worth doing. It sounds like you are careful with your diet. Fixing a leaky gut and reestablishing gut flora with a good probiotic seem to be the crucial first steps in healing. This is a long, slow process for all of us.

  • Nelwyn Luman says:

    We are preparing to do IVF and was given a basic list of supplements to take of which included a active form of folic acid with the bcomplex, 81mg of aspirin, and COQ10 400mg twice a day. I have 2 copies of the A1298C mutation. Is there any additional supplements that I should consider? I have had 5 late missed miscarriages in the past and have 2 healthy children 4 & 7.

  • Nicole says:

    Hi Dr Ben Lynch,

    Is there any reason why you haven’t recommended SAMe to support the BH4 cycle in your above posts?

  • Lorraine says:

    What is the correlation between MTHFR and bi-polar disorder?

  • Samantha says:

    Hi Dr Lynch
    I have just had a test done for this gene and I have one copy of it and it is Heterozygous.
    My hormone tests show Oestrogen dominant and I also have PCOS
    I am on an antidepressant for Anxiety/Depression – off and on for 15 years. Do you think the B12 and folinic acid will help me?

    Thanks so much

  • Cathy says:

    Dear Dr Ben
    I am writing you because I am positive for homogeneous A1298c and my son is 10 years old and is autistic and also has the same gene I truly need help I don’t know what to do because he’s been extremely aggressive and has extreme OCD I have put them on lithium and he has tested zero does this have anything to do with mTHFR .They think he has mood diorder.please help me in anyway you can. I truly need help desperately. Do you know any doctors in the NYC Area please let me know thank you so much and I’ll wait for your response.
    sincerely Cathy

  • Jessica says:

    I just read:

    I have A1298C and many symptoms like insomnia, fatigue, a tiny bit of stress sends me over, migraines, brain fog, random nausea, dizziness & low immune system. Should I be using supplements like SamE and Thorne Methyl-Guard or maybe not? I’m so confused and I don’t know who to trust or where to start. I’ve seen of 50 doctors and I get no where with them. What is your opinion? I guess from the article above I get the feeling that hetero A1298C doesn’t cause issues… It that true?

    • Dr Lynch says:

      Jessica –

      It’s not about the SNP – it’s about how you are doing personally.

      The MTHFR A1298C SNP reduces the MTHFR enzyme function by about 20% only.

      However, that means that it has all the rest of the area working without issues.

      I recommend reading this and following the lifestyle, dietary, environmental recommendations –

    • Ann says:

      Have you ever done any adrenal gland testing? Perhaps your adrenals are exhausted…the whole HPA axis issue may be the problem. Do you have candida? If you ever taken any antibiotics in your life they could potentially have messed your intestinal flora up. Also, getting a detoxigenomic profile could tell you if you might be missing the glutathione gene like I am. You can actually have Lyme disease too! It causes an immunocompromised system along with having blastocystis hominis (parasitic infection). Have you had stool tests to check for parasites? Also, getting a blood test for Lyme would be beneficial…Igenex labs in Palo Alto found the Babesia, tick-born infection in my red blood cells. I am currently waiting for a blood test to come back from Advanced Labs in Pennsylvania to reveal whether or not I have the Borrelia, tick born infection. Tick born infections also cause an immunocompromised system.
      Hope I have helped. Chronic stress will elevate cortisol levels in the blood and brain…causing much inflammation in the gut, brain and body…I would get involved with mindfulness based mediation…etc.

  • Jessica says:

    Thank you for your reply. I do not have 677 issues and that article is about c677t…

  • Cara says:

    Hi Dr Lynch,
    I have had 2 miscarriages and found out that I am compound heterozygous and my doc prescribed me fabb tab and I recently bought your seeking health prenatal vitamins and sublingual active B12 and L-5-MTHF. I am taking the 8 prenatal a daily, along with 1.5 lozenges. Do you think that’s enough folate? Also do you recommend a baby aspirin daily while trying to conceive and during pregnancy?
    Thank you so much!

  • davidrn says:

    Dr Ben, I wondered if you can explain the relationship between MTHFR, dopamine, and phenylalanine. I am taking LDN for RA, (am 1298ac hetero) and D,L phenylalanine is a supplement suggested with LDN to increase the pro dopamine benefits. Do I NOT want to supplement with any phenylalanine because of the MTHFR issue?
    Do you have plans to post an article on LDN in the future?

    • Dr Lynch says:

      Hi there –

      I talk about LDN and recommend it at times.

      Phenylalanine is needed to help make neurotransmitters. You can also use tyrosine for that.

      MTHFR reduces dopamine production due to increased NOS uncoupling and elevated homocysteine – and low SAMe as a consequence.

      I’m sure some people have some great info on LDN and way more knowledgeable than I am on it.

  • HD says:

    Well, I finally got my results back. I’m compound heterozygous. I already knew I’d gotten very sick every time I tried to add in methylfolate, even when I did it at a fraction of a dose every other day. I had a couple great days and then started aching, feeling very tired, and just all around horrible. Then one time I tried to use a fraction of a niacin pill to make myself feel better and had a flush so bad it scared my family–I was on the floor, so tired I couldn’t move, and didn’t recover for days.

    I’m also heterozygous for CBS A360A, and I’ve read conflicting info on whether or not that’s affecting my function. I have a homozygous COMT mutation, as well as a homozygous DAO mutation (after several years of eliminating more and more foods, I’m finally seeing success and adding foods back in by following a low-histamine, low salicylate diet and taking aggressive stress reduction measures such as meditating every day. But most of the foods I eat now are high thiol, which is why I’m especially concerned about the sulfur thing), two homozygous GAMT mutations, and a bunch of others, as well as having a heterozygous mutation on all 3 of the SNPs listed under “thyroid” on my Livewello results. So I’m guessing there are a lot of different factors at play here. My youngest child has been having trouble with food reactions and ADHD, all of us suffer from anxiety, and I probably have ADHD too; possibly bipolar II. I need to get this figured out so that my kids don’t suffer like I have. I seem to react badly to everything I take: the methylfolate and niacin, quercetin, Cymbalta (severe body spasms at just 30 mg), probably turmeric and methylcobalamin and oregano oil…every damned thing. Any encouragement or advice on which direction to take would be welcome. Otherwise, thank you very much for the info you have already provided and the excellent work you do!

    • Ann says:

      Do you have a good Integrative/Functional Medicine MD? Sounds like you may have a leaky gut, parasite, candida or Lyme disease.
      I would have a leaky gut test performed as well as a stool test and an organic acid test to check for candida and parasites too. Lyme disease is not always easy to diagnose like for myself….I have Babesia and never even knew I was bit by a tic…a very sad story. Now I have fungus in my tissues for the past 5 years and no doctor since then ever ran an organic acid test to see that the fungus has been in my tissues.
      Why are you taking oregano oil? that will wipe out good and bad bacteria in the gut.

    • Matina says:

      I read your post and though I am sorry for the struggles you are facing; but I was encouraged to read that finally someone I can identify with. I too am compound and have a great deal of difficulty adding folate supplements to my system and also have an extreme sensitivity to supplements of most sorts to my system; along with medicines for depression and anxiety. I am presently taking an antidepressant and anxiety medicine still. That is a major problem in my whole birth family and children. I did get some feed back from a holistic, homeopathic, medical doctor on line that encouraged me to follow a low to zero histamine diet for the anxiety piece. The reason for this was that I noticed anxiety and nervousness with various foods from the dairy and even some fish. I have also had my food sensitivities tested with Dairy at the top.

  • Valorie says:

    Dear Dr Lynch,
    Hi my sister also has been diagnosed with MTHFR a1298c heterozygous gene ( which I believe means its one copy ) as the 677 came back as not detected. I have been researching and getting confused by whats online
    Her obstetrician had prescribed Megafol5 which is 5mg of folic acid to take 3 months before trying to conceive and also told her to take some kind of asprin when she does fall pregnant called Cardaprin 100 . When I read online it says to do the opposite and not take Folic Acid especially that quantity which is like 10 times the average amount for an adult .
    The reason my sister had the blood tests was due to 2 miscarriages before finding out about the gene issue. I can not find any doctors in Australia that know anything and the only support group is MTHFR Support Australia who are all naturapaths so I am not sure if we should be listening to them or to Dr’s like her obstetrician .
    I was also told by the genetis clinic here in Westmead NSW there is no medical evidence this causes any serious issues and that its not a mutation but rather a polymorphisms which is just a variant of the gene.
    Apart from the miscarriages, her other symptoms are she is lactose intolerant ( mild ), some small symptoms of IBS and she also has Anti-M antibodies in her blood results at low levels.
    Can you direct me to information that is accurate ? Are there any studies? medical evidence, clinical trials that show the links of health issues when so many people seem to be experiencing them?? I just want to find a Dr in Australia that can help?

    My sister went and saw a naturapath today who told her stop Folic acid immediately and prescribed folinic acid (pure innovation) brand , methylcobalamin ( 3 drops a day ). but from the above post, it doesn’t seem like she really needs supliments and its really unknown if the one mutation a1298c hetrezygous is causing all this … so confused :(:(:(. what should she be taking??? Please help

  • Valorie says:

    also her homocysteine levels are normal ranges

  • Nicole says:

    In this article, you said, “My current stance on the heterozygous MTHFR A1298C mutation is that it is very common and does not seem to pose too much concern unless there are other methylation or cytochrome mutations present.”

    What are those other combinations? Right now, I am looking at a hetero 1298C but also homo CBSA360A, ACAT1,DAO,GAD1,MTHFD1,MTRR, NOS2,VDRBsm, and VDRTaq. It looked like a lot of red in the methylation section. Are those combinations that would be problematic with a hetero 1298C?

  • janet says:

    Can you tell me if Seeking Health will ever be making a gummy vitamin/mineral supplement for those of us with the mthfr mutation?

  • Cathy "Kandy" Jolliff says:

    Dr Lynch,
    I had a long letter that i was going to send but after just now reading all these stories, you are bombarded with them! Your doing wonderful things. I just want to tell u a little about my daughter (Shawnie). She was diagnosed with Chiari Malformation about 8 yrs ago. She suffers so each day with so many symptoms like aching muscles,depression, memory loss, heart palpitations (which we are having tests done), she can’t drive anymore & a lot of others that it just breaks my heart. She’s been reading everything & came across articles on the MTHFER genes. So she took the 23 & me test & then thru Genetic Genie we got her results showing she has 3 +/- MTHFER genes, C677T, 03P39P, A1298C which are called heterozygous right? She also has 4 +/+ other different ones. she can’t take any sulfur drugs, once taking Bactrim ended her up in the ER with feeling like she was on fire from head to toe! That was so awful & she still suffers from that incident that was months ago! She is off wheat, diary, red meat, all packaged & can foods etc. She hardly eats anything! She read not to take Whey products, amino acids & niacin. But in some stories you say to take niacin? Its all very overwhelming but Im trying to understand it better. Also we can’t seem to find a decent Dr. here in Las Vegas. They all just want to operate! The odds are not good. I guess I would like to know if the MTHFER genes are the cause of the Chiari? Should she have more tests done, like the one you said in another story, for her homocysteine levels? I have 3 beautiful grand girls who now I’m worried about also. I no your so busy, but if you can shed a little more light on this, It would be so very much appreciated.
    Sincerely, Kandy

  • Chris says:

    Dear Dr Ben,
    I have Heterozygous MTHFR A2398C and PAI 4G/4G polymorphism and elevated homocysteine (12.1). My homocysteine was not reduced after taking Vitamin Code Raw B-complex in addition to a methylfolate supplements every day. I also take 2000IU Vitamin D3 and 500 mg Calcium and Miralax (which I would like to stop)

    I have many of the symptoms listed – yet those can be explained (possibly) by my diagnoses of Ehlers Danlos Syndrome, Chiari Malformation, IBS-C, Dysautonomia, and suspected Mast Cell Activation Disorder. INR was low (.9).

    I am also taking Vitamin D3 (2000mg) and Vitamin C (500mg) daily.

    My geneticist has mentioned that it is possible that I have a magnesium deficiency, as standard blood tests are not accurate and I have considered taking a magnesium citrate supplement.

    Do you have any suggestions about reducing my homocysteine levels and returning INR to normal??

  • Ife Majkia Gaston says:

    Where is the best lab to get the Blood test run for MTHFR mutation and what tests should be asked for? I have had the test and it has shown two different results: one with Hetero A1298c and and one with both A1298c and c677r. I want to get my family tested, cause we have almost all and then some of the conditions you menton here.

    • Elizabeth says:

      I think Dr. Lynch has answered in the past about this, can’t say for sure. I got a single test (MTHFR) done a few years ago, and the cost was something like $180. (Nowadays insurance often covers a portion, I think.)

      BUT the genetic test 23andme gives results for both polymorphisms, along with hundreds of others (via the raw data, so you need to download your raw data once you get your result, then upload it into a free program such as geneticgenie to get your results). The cost is $99 for the first family member, w/ a $20 discount for each additional family member; the wait time is 2 or 3 weeks. Very worth it.

    • Lynn_M says:

      Dr. Ben has answered this question, and his advice is to get the 23andMe test.

  • Stephanie says:

    I had a stillbirth last month at 21weeks and have since been told I have PAI-1 4G/5G and MTHFR a1298c. I am trying to research both of these mutations on my own and figure out what diet I should have as well as what prenatal and addition supplements I should take prior to try to conceive again. I got no information from my doctor other than she didn’t think they were the cause of the stillbirth. I appriceate any advice. Thank you!

  • Renae says:

    Hi Dr Ben,

    I am homozygous for mthfr 1298, and am having huge problems with my sleep, very persistent imsomnia, and also deep fatigue. I have never been suicidal but sometimes, after the nights I lay tossing and turning for hours on end, I wonder what the point of living is when living like this is so miserable. When I do sleep, I am happy and do not consider myself to be depressed. The only help my doctor is offering is an antidepressant, which I am not excited about.

    It seems to me that there is some kind of problem with the chain of neurotransmitters that should be kicking in a good healthy sleep, but I cannot find enough information about this particular problem relating to 1298. Do you have any suggestions of supplements I could take to increase my neurotransmitters enough so I can get good sleep? There has to be an answer somewhere!

    Thanks for your time.

  • Tracy_W says:

    Hello Dr Ben,

    I have hetero A1298C

    I have pernicious anemia (PA). It was diagnosed very late so am quite illl with neurological as well as other symptoms. Any resources you can direct me to for better treatment? My HMO docs are not very helpful and don’t understand why I get sick after a cyanocobalamin injection (could it be a methylation issue?).

    Have you investigated whether there is a connection between A1298C and PA?

  • PA says:

    I have in my Livewello methylation report:

    (Gene – allele – genotype)

    HLA-DPB2/COL11A2P – rs1883414 – AA
    HORMAD2 – rs2412971 – AA
    IFIH1 – rs1990760 – TT
    IRF5 – rs4728142 – AA
    TRAF1 – rs3761847 – GG
    FCER1A – rs2494262 – AA
    RAD50 – rs17772583 – GG
    RAG1 – rs3740955 – AA
    AGT M235T/C4072T – rs699 – AA
    C18orf56 (TYMS) – rs502396 – TT
    CBS A13637G – rs2851391 – TT
    FOLR2 – rs651933 – GG
    MAOA R297R – rs6323 – GG
    MIR4761 (COMT H62H) – rs4633 – TT
    MIR4761 (COMT V158M) – rs4680 – AA
    MTHFD1 C105T – rs1076991 – TT
    MTHFD1 G1958A – rs2236225 – AA
    NOS2 – rs2274894 – TT
    SOD2 – rs2758331 – AA
    SOD2 – rs4880 – GG
    ATP5C1 – rs1244422 – TT
    ATP5C1 – rs2778475 – AA

    …and in my Genetic Genie report
    COMT V158M rs4680 AA
    COMT H62H rs4633 TT

    Please can you tell me what these mean for me.

    I have several conditions diagnosed.

  • PA says:

    I posted my relevant genetic information yesterday asking if you could advise me, it seems to have disappeared?

  • mdepem says:

    Hi Dr. Ben,
    I am A1298C +/+, BHMT02 +/+,BHMT08 +/+, ACat-01+/+,CBS A360A +/-,MTRR A664a and MTRR A66G +/-,MTR A2756G +/-. I have not had a lot of fun over the last year. I have been healthy all my life until I got pneumonia last year. After two months of antibiotics and inhalers, my health fell apart. I think my methylation cycle went sideways.
    I now have a lot of the symptoms you have listed above- more physical than emotional. My issue is I now have a high histamine level. I understand methyl groups from SAMe can combine with histamine and deactivate it. As my mythlation cycle isn’t working, my histamine levels are high. The issue with the high histamine levels is that it is causing reactions which look like allergies but are not true IgE mediated allergies. I have been tested and have no IGE allergies. However, I react to everything. I have tried on my doctors guidance a subcutaneous injection of Methylcobalmin 2500mcg. It just about crippled me with joint/muscle pain. Hydroxy B12 the same response. Liposomal glutathione same response. I tried a simple food that boosts glutathione — colostrum- same response. I am wondering about the BHMT pathway with Betaine but I suspect the same will happen. My homocysteine levels are also high normal. Any suggestions on what will help? I am trying the infrared sauna 3x per week to sweat out toxins but I am also struggling with the inflammation. Any suggestions on how to get my methylation cycle back on track would be very much appreciated! Many thanks!

  • Sue McGee says:

    Just curious. Can having the MTHFR gene have anything to do with the fact that my appetite seems to be almost constant? I am hungry ALL the time. I eat a full meal, and an hour later, I am STARVING. They say I am not diabetic, not hyper or hypoglycemic. Thyroid is fine, metabolism is normal. Slightly overweight, not too bad. Pushing 50. No fibro or RA, nothing like that. Any thoughts?

  • Sheila Loren says:

    I just got my test results. I am C677T Negative but A 1298C Mutation Homozygous. I wasn’t sure, but from your article it seems I don’t need to be taking Methylfolate? Kind of confused…

  • Holly says:

    I don’t know if this thread is still being monitored since it is a few years old. Hopefully it is.

    I have a single copy of the A1298C mutation. I see that the general consensus seems to be that heterozygous A1298C doesn’t really cause problems. I am very confused by this as I have been plagued by symptoms and health issues for a decade now. I’m currently taking methylated B vitamins, and they do help me feel better. I’m just feeling confused about whether the single A1298C mutation is really what is causing my issues, or if I should be pursuing another path. I’m SO tired of seeking answers and always coming up empty.

    • Aron says:

      Hi Holly,

      Health issues can have many contributing factors, and an A1298C mutation could play a part in that. Have you reached out to a doctor who could work with you to investigate this?

      Dr. Ben’s basic protocol, which he originally wrote for C677T mutations, actually has been beneficial for individuals, like yourself, who have A1298C mutations. This will give you and your doctor a lot of ideas to work with.

      Getting from plagued by symptoms to health isn’t a straight line, but there’s definitely hope that you can move in the right direction.

  • mdepem says:

    Quick question for anyone! I am +/+ for 1289C, BMHT02-08,ACAT01-02. I am pretty symptomatic at the moment, tons of hives, allergies, intolerances to just about everything (really toxic I know.) My dermatologist says I have to have a mole removed. I am terrified of having a reaction to the local freezing. Any suggestions on what I can take or ask the surgeon to give me? (Non sulfur to start as I think my sulfur pathway is blocked as I reacted badly to Glutatathione and M b12. ) Any suggestions would be greatly appreciated!

  • Janey says:

    I found out about a year ago that I had a A1298C Hetero MTHFR mutation. At the same time I found out I have C282y Homo Hematochromatosis mutation.

    I’m beginning to wonder if the MTHFR mutation is enough – with all else I have going on – to contribute to my symptoms: extreme fatigue; pain – specific and diffuse, including body aches where even my skin hurts; brain fog; difficulty making decisions; lack of motivation/feeling overwhelmed; severe constipation (despite multiple meds taken concurrently: magnesium, docusate sodium, miralax, and suppositories) mixed with diarrhea (making medicine management challenging); hair loss – not just on my head; sleep disturbance; dry skin and hair (I can go days without washing hair or face); itchy scalp; hot flashes mixed with cold spells; mild lower leg pitting edema. I also have low blood pressure (100s/60s) and low body temp (normal is around 97.4).

    My RBC folate and serum folate are always super high: 4-1/2 to 9-1/2 TIMES the normal values of >160 and >3.0. I don’t think they have 1493 and >20 in mind. The lowest value I have seen is 696.8. I know at least some of those values were without supplementation.

    While my hemoglobin is never low, I’ve had repeated bouts of anemia with low RBC and ferritin – even serum iron was low once.

    I found out many of my symptoms (*see below) were characteristic of low thyroid. Just recently, I discovered that even the right shoulder pain I have is a symptom of hypothyroidism. I had no idea low thyroid function could cause pain, especially pain in a very specific pattern! So, I’m currently on medication for thyroid.

    I had been on Synthroid for 1-1/2 years (started at .25 and went up to .75). My symptoms at the time were not as bad, or as plentiful, as they are now. The Synthroid did not help. Finally, with my doctor’s approval, I went off the medication. I improved for awhile but then symptoms returned with a vengeance.

    The doctor thought I was one of the atypical patients with T3 involvement rather than T4, explaining why previous therapy had failed. So, she started me on the one T3 medication. After 6 weeks, she added Armour thyroid. After 6 more weeks, she asked if I was even taking the meds. (I was, as directed.) So she doubled the Armour. I go in for retest in 2 weeks. So far, I have had only minor reduction in symptoms, except for the cold spells which have completely disappeared. )I’m also taking Spirinolactone for adult hormonal acne.)

    I was a physical therapist, so I know the relationship between exercise and pain. I know the relationship between sunlight and depression. I have done everything that should make me better. Sunlight. Exercise. Diet. Medication. Prayer/relationship with God. But, so far, for me – even when I’ve done them all at the same time, they have not resulted in healing. That in itself can result is a defeated feeling.

    I’m still on the journey.

    Just in the last few days, I found 2 suggestions that I plan to discuss with my doctor in 2 weeks. I found them in relation to thyroid, but they have more far reaching implications, including pain:
    1) Solaray Thyroid Blend Sp-26.
    2) 600 mg Thiamine (vitamin B1), specifically Ultra Benfotiamine – 4 capsules/day for 1 month then 1 capsule/day.
    The Solaray is much more budget friendly.

    I’d appreciate your overall thoughts as well as any specific recommendations you have regarding the last 2 supplements I mentioned in their relation to MTHFR A1298c hetero mutation.

    Thanks so much.

    • Ann says:

      Do you eat any wheat or gluten? Have you been tested for the HLA DQ2 0r 8 genes?
      Have you been tested for leaky gut and had the Cyrex lab test for it?
      Have your adrenals been tested with the ASI lab test for adrenal fatigue?
      Any of these things could be causing the fatigue, thyroid issues, etc. I read an article the other day how wheat and gluten can cause autoimmune issues like thyroid problems. Please get tested for wheat and gluten sensitivities by getting the HLA DQ2 or 8 genes checked out…sounds like your gut lining is inflamed and irritated. When this happens this affects the mind, mood etc.
      Get onto making bone broths, and the paleo type diets …Chris Kresser has a couple of books out…and reading Sarah Ballantyne’s book would help also. Her books are at Costco. Sounds like you may need to heal your gut.
      I had anxiety starting at the age of 12 and then depression at 24….I also am missing the glutathione gene in my liver…so I don’t eliminate toxins out of my liver so I have to put a glutathione cream on my skin daily to have somewhat of a normal life.
      Hope that I have helped. I have one of the A1298C (heterozygous) genes.

  • Beth says:

    Thank you for speaking out. My blood work came back with a homocysteine of 9 and after hearing Dr. Lynch lecture I got tested.

    Interestingly I am homozygous A1298C

  • Brenda says:

    Hello Dr. lynch,

    I was tested for MTHFR in November of 2014. My C6771 is 3/3. My A1398C is C/C. My husband has the same. My doctor said that was high risk and started me on 15 mg. Deplin, DIM, Niacin, Iodine. I am hypothyroidism but all he tested was TSH which was 0.04-high risk. He also put me on Nature-thyroid 162.5 mg. , and started me on BioTe identical hormones. I have been taking a subingual methylcobamin and for several years received injection of B12 and folic acid. I haven’t done that for 6 years. I didn’t refill the Deplin because of the cost, so what can I buy to replace it? I also tested high risk for Insulin resistance and beta Cell strain. I struggle to lose weight as well. It is so hard to find a Dr.who knows.about all this. I am so frustrated!!

    Advice is appreciated,


  • Ann says:

    Have you had a lab test done for the HLA DQ2 and 8 genes? Most people who have these genes are not supposed to be near wheat or gluten. These people typically have autoimmune disease, Thyroid issues (hypo or hyper) and leaky gut. Insulin issues are related to autoimmune disease and leaky gut.
    I would go to an Integrative medicine md or functional medicine md or integrative medicine gastroenterologist. Seriously, this may be your issue.
    Go Paleo and look up Sarah Ballantyne’s Autoimmune Paleo Book and her cookbook…she has healed herself and is helping other’s…her books are also sold at Costco!

  • Leslie says:

    Hello Dr. Lynch. Thank you for posting all this info and this website!
    I must disagree with the belief that A1298C heterozygous does not cause problems. I became increasingly sick over the last 25 years, even though I maintain a healthy lifestyle and diet. I was diagnosed with fibromyalgia, hypothyroid and adrenal fatigue, among others. Symptoms included chronic muscle and joint pain, extreme fatigue, brain fog, memory loss, GI distress, anxiety, depression and other debilitating symptoms that increased a little each year. This last year, it seemed to reach a crisis point and I became nearly incapacitated. My family practice doctor tried various treatments, but they did not relieve the symptoms. I finally consulted an integrative practice doctor who is both an MD and naturopathic physician, even though this is not covered by my insurance. She ordered a bunch of lab tests. The tests came back positive for one A1298C mutation and negative for food allergies and autoimmune diseases. My thyroid levels and other tests were normal. She recommended a course of treatment for MTHFR. About 2 weeks after starting the supplements, my body went through a purging process for 10 days. On the 11th day, I woke up feeling almost euphoric with energy and had complete relief from all symptoms! I have been taking the supplements for about 2 months and never knew I could feel so good! I can only believe the single MTHFR mutation was the problem. I hope this encourages people who have heterozygous A1298C to get treated. This has given me back my life. Thank you for allowing me to share.

    • Glenn says:

      Hey Leslie.

      I don’t think Dr. Lynch believes that the A1298C mutation can’t cause health issues, but that there’s more SNPs to factor in, and that it’s the sum of those SNPs together with environment and health history (virus triggering certain epigenetic switches etc, mercury blocking some pathways and so on) that will determine your reactions and health.

      From my reading the A1298C is quite different from the C677T, in that it reduces the function of the recycling of BH2 into BH4. So it would be interesting to hear what exactly your integrative doc used in the MTHF treatment that worked so well for you.

      • Leslie says:

        Hello Glenn,
        Thanks for the response! I want to learn as much as possible.
        I am taking individual OTC supplements, but just learned that my insurance will cover Cerefolin NAC, which has the first 3 nutrients listed below, and is more economical with insurance coverage. It does have some fillers, so if that is a concern the supplements are better.

        5MTHF, or L methylfolate, 5 mg per day
        N Acetyl Cysteine, 600 mg per day
        Methylcobalmine, 5000 mcg per day in a strip or lozenge dissolved under the tongue.
        D-Ribose powder, 5 gm am & 5 gm pm= 10 gm total per day.

        I admit I do not understand the science of this yet, so perhaps I didn’t understand Dr. Lynch’s comments. I just know that if anyone can get the results I did, by all means get treated!

        Where can I get more info on the processes you mentioned? It sounds very complicated! Is there a book available? Thank you –

    • abc says:

      Did you feel nausea with your purging period? Or anyone else here? I tried treatment and felt extremely sick in the first week. I have stopped taking my supplements. Going to wait until I see my doctor again. I am still having nausea two days from stopping the supplements (methylfolate, methylcobal…b12). Also, anyone here with compound heterozygote with histamine issues? Do we have histamine issues because we can’t methylate properly? Histamine is broken down in the stomach by DAO and the enzyme (starting with H…) in the liver. This is such a headache for me. Do you work on healing the gut first before treatment, as it seems we need to methylate properly first? Should I work on taking molybdenum with zinc before I start with the methylfolate and b12 treatment again (these are my other supplements, plus taking magnesium at night). I can’t handle my nausea.

      • Leslie says:

        abc – I am sorry you are dealing with nausea. It’s a horrible feeling.

        Yes I did have it during the purge. The GI symptoms were like food poisoning with nausea, vomiting and diarrhea. Previous to starting treatment, I would have “episodes” in addition to extreme fatigue that never went away. They started with a feeling that a black oily smog cloud had developed in my head – I couldn’t think straight and forgot common words. I also had bad allergy attacks with sneezing, runny eyes & nose, etc. One day I sneezed 50 times in a 5 minute period. (honest – my husband counted!)In addition to the GI symptoms mentioned above, my muscles and joints were very painful, and I developed terrible headaches later in the day. Exhaustion was pervasive. These “episodes” usually lasted 1-2 days. During the purge phase, these symptoms started out moderate and over the 10 day period worsened. The last 3 days of the purge I could not even keep water down, could hardly crawl out of bed, and was concerned about dehydration.
        I have felt really good since then, until I ran out of 5-MTHF last week. Only one shop carries it and I haven’t been able to get away from work to go pick some up. I will do that today! This morning I had another “episode” and feel miserable. Reading these posts, it sounds like I am lucky that the treatment worked so well. It sounds as if starting slow and easy is the best course of action for most people. You may have better results by taking portions of your supplements or taking a few days off between doses at first. There is info about that in earlier posts. This is where I learned that I should have started slowly, but my dr. didn’t know that either, so I jumped in with both feet.
        Since my last post I learned that Cerefolic NAC is now available as a generic medicine that is exactly the same as the brand name. Some insurance will cover it, and it is MUCH less costly that buying the supplements individually or buying the brand name.
        I hope you overcome the side effects and are able to get the great results that I have. I hope everyone who is sick gets help!
        One thing that may have helped is that I coincidentally started a gut clean-up program – in desperation for relief – about 4 months before I was tested for MTHFR. A nurse friend recommended the HOPE formula, which is high fiber, omega oils, probiotics and enzymes. I fell in love at first sip with kombucha and started brewing it at home and drinking 1-2 pints per day, as well as taking high quality probiotics and enzymes. I was already eating a pretty good diet, but cleaned it up even further by being aware of chemicals that I could avoid. (Not really possible to avoid everything in our environment.) I also did a gentle organic 14-day cleanse a week before starting supplementation. So my system may have been more receptive to the supplements when I started.
        Hang in there and try to get through the bad part until you feel better. Hopefully your body will detoxify slowly and you will feel healthier as time goes by. All the best in your efforts.

        • Ann says:

          Have you ever been tested for leaky gut and the HLA DQ2 or 8 genes? Sorry to ask but many people aren’t able to digest certain grains especially wheat and gluten and this can affect your brain too and damage your gut lining enough so that you have food allergies and other symptoms.
          Cyrex Labs has a test for leaky may want to look into this as well.

  • Angie says:

    Hetero A1298C
    I just got the result that I am Hetero A1298C single mutation. The C677T was not identified. I am trying to understand what that all means. My most troubling sx/dx are anxiety and insomnia. I am working with a biochemical/ ortho molecular provider and also found out I have Pyrrole disorder so that is another piece, but in regard into this mutation what I am reading, seems that having only the single (hetero) I should not really have any problems like if I were to have both mutations, is that correct? Im confused.

    Thank you!

    • Aron says:

      Hi Angie – It’s not always possible to predict exact symptoms based on one test result. You are an individual and your symptoms will not be exactly the same as someone else who also has a heterozygous A129C test result. The body is miraculously complex and there are thousands and thousands of biochemical reactions that have to work in concert to keep us alive. It really is amazing! So, to say that you should or should not be having certain problems would be an oversimplification. Understanding your MTHFR status is one piece (an important one!) that interacts with factors like stress, diet, lifestyle, environment, and mental/emotional to determine whether you move towards or away from health. I hope you are getting excellent care from your provider and that you continue to get well.

      • Angie says:

        Thanks Aron and Susan. I am swimming in a sea of literature and research and just don’t have time to read and read but when I do I find bits that seem so similar to my issues but the people usually have more mutations so I just wondered if this was one of the big pieces of my puzzle or not… I get what you mean, it’s only a small piece and can be hard to know all the contributing factors. I also just found out I have very low ferritin(8) and low B12. So I am going to supplement those. I wonder if I need folate also. It’s puzzling to me because I was really high folate and b12 in Dec and now low? I’m thinking it was high because I was on a B complex then and maybe not absorbing or using it? I have an appt in July with a functional med doc. Just not wanting wait so long to try to start feeling better or taking supplements. My anxiety prevents me from taking supplements Also because I don’t want to take the wrong thing! So frustrated :(.

        • Susan says:

          Angie, my guess is that you were high in B12 because you were taking a supplement containing cyanocobalamin, which people with MTHFR can not use. It builds up in the blood without ever getting into the tissues. The same is true for folic acid. We can not use it, but the blood levels appear to be high. We need a methyl-folate instead, as it does not need to be broken down to be used. Your low test results may have been from an RBC tissue test which showed you to be low at the tissue level. Other forms of B12 like hydroxy-B12 and other forms of folate will be better used. NEVER eat or take anything containing folic acid. It is a stable synthetic that requires multiple steps to break it down and we don’t have the enzymes to do that. All of the enriched foods contain folic acid. If you have not cleaned up your diet to eat as fresh, whole and organically as possible, that is a good place to start. I hope some of this sounds familiar and is helpful.

        • Ann says:

          Elevated Cortisol levels from chronic gut inflammation, stress and eating gluten and wheat can cause anxiety. I am a non celiac with Gluten and wheat sensitivities. I found out that I have the HLA DQ2 gene….where genetically I shouldn’t be eating wheat or gluten.
          I also had chronic stress in my life that lead to leaky gut.
          I would get tested for leaky gut…Cyrex labs can test for you.
          Maybe you have something else irritating your gut lining like…yeast overgrowth from antibiotic usage and eating foods that have been treated with antibiotics.
          I would eat a whole foods diet….full of nutrition…organic if possible…paleo also.
          Sarah Ballantyne has a book and cookbook out that helps those people with autoimmune related issues…I think reading her books would be beneficial.
          Eating fermented foods will help to heal your gut…along with taking Vit D, zinc, etc.
          Stay away from sugar as sugar is highly inflammatory to the gut lining as well as dairy. Kefir is ok as well as yogurt. Eat plenty of salmon for the Omega 3’s and stay away from inflammatory oils, etc. Eat an anti-inflammatory diet.

    • Susan Hildebran says:

      Angie, from reading your question, it sounds like concentrating on the Pyrrole problem might explain more of your problems than the A1298C would. This is all very complicated. With one copy of the A1298C mutation, you are less affected than most. The symptoms of kryptopyrroles are similar and more easily treated, so that deserves your attention first. Good luck!

      • Matina says:

        Perhaps you could explain the criteria of treatment for these mutations. When I was diagnosed with just the C677T 6 years ago I was told I ‘needed ‘ to take the methlyfolate everyday for the rest of my life. I took natural supplements titrating me from one milligram a week to seven a week. Eventually I was put on the deplin at 7.50 a day. It was so long ago that the things I remember the most were the one track mind, irritable feelings, and as mentioned before a horrific rash that caused me to stop.
        Since then I have found that I have one copy of the C677T and one copy of the A1298C. Without going on about this I wondered what the updated protocol is in regards to the problems this combination seems to cause. From the many posts I have made I am sure if reread they will confirm that I have struggled with severe anxiety, panic disorder, and depression. I seem to be able to get most of this under control better with the medicine than the supplements as a whole due to all the extreme sensitivities. I went off of the paxil I had taken for seven years due to weight gain mostly and the stigma around it. But it was the only medicine that helped me feel ‘normal’. Since coming off and trying different anti depressants and nutritional supplements I have never felt that normal again; and feel like I am constantly wasting my life looking for an answer that is probably just the medicine.

        • Margaret says:

          Are you aware that the heavy metals, lead and aluminum can block methylation at crucial points in the cycle. It seems as if your BH4 productiion is compromised which is important in producing serotonin, dopamine, and GABA. Lead and aluminum block the BH4 production. Have you checked to see if you have heavy metal problems. When I first started taking methylated supplements I could not tolerate the methyl groups. I checked my heavy metal load and found it to be hight. I then started a round of chelations.and almost immediately I could tolerate the methyl groups and my need for supplemental GABA went down. Of course you need to look at other mutations to see your particular pattern. I printed out a copy of the methylation cycle and highlighted all my homozygous mutations and researched to see how they all related. It helps to do that.

          • Ann says:

            Can you please tell me what test I need to check for heavy metals? I may have this issue. Thank you for your help.

          • Margaret says:

            Your Dr needs to do a CaEDTA challenge. After the IV challenge you would collect a 6 hour urine sample and have it tested for heavy metals. I am homozygous for the A1298C and a MTRR mutations. I don’t have heart disease but I have had problems with anxiety and pain. My lead levels were in the high range. The methylated supplement: methyl protect and SAMe are now well tolerated and I feel good

          • Brad says:

            Margaret, there is a great over the counter oral chelation therapy which includes EDTA. I did it for 3 months and my brain fog is rapidly clearly, but it also wipes out your iron and I’m pretty tired by month 3. The heavy metal urine test does not check for aluminum, my main culprit and my test came back negative. So, consider all of the aluminum in your life, especially if you are inhaling it anywhere. I have compound heterozygous mutation and this is the second time aluminum has gotten into my brain and created absolute havoc. Other items that help with aluminum chelation – melatonin, glutathione, NAC + MSM help produce glutathione, Silica found in the herb horsetail. Read up them all and their side effects. Good luck to all.

        • Susan says:

          Matina, From what I have read, the recommended protocol starts with a diet and lifestyle that are clean and wholesome. Avoiding triggers like pollution, chemicals, and allergens is most important. Most often there are warnings to not start methyl-folate before the gut has been healed. If you were doing well on natural methyl supplements, is it possible that the Deplin caused the rash? Going back to doing what you were doing when you felt well seems logical. Could a lower level of Paxil work for you? Sometimes, we develop a ‘new normal’….perhaps Paxil is part of yours. I have been working with a nutritional therapist and have been happy with the results. It is very slow, but I do feel better. She addressed the leaky gut first with a rather limited diet. Foods are being added back now and I am taking more B vitamins after 6 months . Working up very slowly seems to be the accepted way to take folate…..after you build up the B12 and fix the gut and diet. Generally, low and slow seem to work best for most people supplementing folate. If you reach a level where you no longer feel well, go back. Look at all aspects of your life to see if there is something that could be improved. All the little details are important…..we are just more sensitive than average and need to adjust accordingly.

    • Susan says:

      Angie, from reading your question, it sounds like concentrating on the Pyrrole problem might explain more of your symptoms than the A1298C would. This is all very complicated. With one copy of the A1298C mutation, you are less affected than most. The symptoms of kryptopyrroles are similar and more easily treated, so that deserves your attention first. Good luck!

  • Matina says:

    Dr. Ben
    I am writing yet again; having never personally gotten a response from you but I do understand how busy you are. I have battled with depression and anxiety for years. I did fine for years on Paxil but once off of it due tot he weight gain; I never really regained my balance of emotional health, no matter what medicine or supplement I took.Several years ago I found out I was compound heterogeouz with one mutation of A1298C and one C677T. I have been to several doctors and natural paths for the past 6 years and am still trying to find an answer to treatment that I can depend on.
    I recently went to a natural path that was from your resources. He was really very helpful and understanding of my struggles. The problem I have is that he recommended several supplements for me to try most of which I have been on before; some with bad reactions and some not. The supplements he suggested are as follows:

    800 mcgs. methylfolate
    1000 mgs. Vitamin C 2x’s a day
    12.5 mgs. Iodine
    5000 IU Viamin D summer and 10,000 winter
    1000 mg. fish oil concentrate

    He suggested I might not need the b12 due to my blood levels being 700 or so and also that i seemed to be feeling more energized that comfortable when I take it.

    What are your thoughts on these supplements?

    Also I am very confused about whether or why I might or might not need the folate or B12 from some of the posts you have made.

  • Rebecca Hill says:

    Matina, the high methyl folate is most likely making you detox and that will make one feel much worse!! There are steps to go by before one should start the methylation pathway. Go Google Dr. Amy Yasko and look up her short route to methylation. She is the most or one of the most knowledgeable Dr.for the methylation mess I have found. You must first concentrate on the CBS snps if you have those. I have just begun taking small dose of lithium oratate and once it is up to par then I will begin the methyl 12’s. You must research and that really is the only way to find answers. Amy Yasko is where you should begin I promise. Good luck.

    • Matina says:

      Thanks! I will keep researching but frankly I feel like that is really all I have done for the past 7 years of my life since stopping the paxil anti depressant and not being able to find an anti depressant that helps as well. It makes one very tired of life. Tried small doses of the folate and b12 again this weekend. Busy like a bee and no anxiety day one but felt still on fast forward. Woke feeling sorta okay but took the folate a bit late so skipped the b12 anyway as I didn’t want that hyper feeling. The day was horrible-filled with sick anxiety that is calming some as l now as I took my small night dose of clonazopram. So are you also saying that I need to get those 123me or whatever snps before going any further to determine these other factors?

      • Susan says:

        Matina, the hyper feeling can come from the methyl-folate! Dr Ben has written about this and how niacin can counteract the excess folate. Doing 23&Me is worthwhile since there are many SNPs that may be affecting you in other ways.

        • Matina says:

          I don’t usually get hyper from the folate. The first day I take folate alone I feel tired and rather calm. The second day alone I feel more irritable. When I keep the two low I am fine for a couple of days then weird things start to happen. It may be the combination of the anti depressant with them-I don’t really know. I didn’t take anything today and felt weak all day I have been doing some research about foods more and trying to get the nutrients of the b12 and folate more from foods. I did order the Seeking Health B12 and folate Dr. Lynch recommends. I can cut them in quarters and get a smaller dose. I don’t take any B6 with it though because I felt as though it exasperated it..

          • Susan says:

            Check out everything that Dr Ben has written on taking folate. He makes the point that when you feel great, stop taking it. It is easier to take more when you start to feel down than it is to counteract crashing after you take too much. You may need to take the B12 to build up a reserve before you take the folate. My experience with the nutritional therapist has been positive. She fixed diet and gut issues before embarking on supplements. Ideally, what we need will come from food, but we have to be able to digest what we eat before it can do any good.

  • Matina says:

    Susan; how does one know if they really need the B12 or need to build up a reserve? My lab results before taking the B12 ever was in the 600 range. Since taking it off and on it is in the 700 range. It is hard to tell what is methyl or regular supply,
    I have been to three different naturalpaths-they are all well meaning but all have different ideas about the B12 and folate. As I said in an earlier post my latest one prescribed a slue of supplements and I have been trying to add one every three days but got so sick this weekend after adding in the 1000 mgs. of fish oil I wasn’t sure what in the heck was going on. I suspect it was a combination of the fish oil and eating foods that I know better than too. Anyway- I haven’t taken neither B 12, folate nor fish oil for two days. I have had a rough patch for a couple of days. Yesterday I was weak and lazy. Today I have been off and on emotional.

  • Susan says:

    Some methylation pathways require B12 as a substrate. They only work until the B12 is used up, which is why one needs a reserve. Your B12 test was high. Was that serum B12 or tissue B12? It is common for serum levels to be very high if cyanocobalamin was the source. It gets stuck in the blood and can not get into the tissues where it is needed, because we can not break it down into a usable form.

    From what you said earlier, you have identified histamines as a problem, causing anxiety. Are you on a strict elimination diet? That may be a better place to be focusing right now and give the supplements a rest. I have the same compound heterozygous MTHFR 677/1298 that you have. The nutritionist started me off eating more meat, vegetables and fruits that were low histamine, low glutamate, low arginine…. no grain, no dairy, mostly roasted meat and root vegetables. My anxiety improved immediately and I was able to sleep well for a change. Maybe you should look at your diet and see what can be improved there. After a time, you can gradually add the supplements back in…..very slowly. She adds one more pill a week. Adding back foods is done one at a time, one per week, after you have been on the elimination diet for some time.

    23&Me will give you a lot of information on other SNPs that affect you more than the MTHFR does. Are you gluten free? That is a big one, even if you are not Celiac. I did not get good results from the gluten free diet until I limited glutamates and eventually went grain-free as well. If I stay on the diet, I feel pretty decent. If I cheat, I don’t. Glutamates make you hyper in a way similar to histamines. The difference is that histamines are cumulative so you only have a reaction after you have exceeded your tolerance. Glutamates (think MSG) make me nervous and wide awake 2-4 AM. That got old quickly. So, what is your diet like???? What gives you trouble? What are your safe foods?

  • Susan says:

    Dr Ben is speaking on MTHFR and anxiety at the anxiety summit tomorrow May 13.

  • Sam says:

    Hi Everyone,
    I have been following this thread for a while, I am also A1298C heterozygous . I have been on Antidepreesants for 15 years, for anxiety, but have had depression trying to get off them. I got off successfully last year but after a month being mainly symptom free I got the shakes and insomnia, lots of tension and panic attacks.As I have a family and a business I thought I needed to go back on them so starting the saga of starting again brought on a massive nightmare of morre anixiety and a lot of ups and downs, very low downs lasting a day or 2 then lifting , calm days then bad then good etc.
    I decidec I needed to see a Nauropath who told me I had a very reactive nervous system, we have been strengthening it with Magnesium, Pre gaba (which they have ran out of) and I am waiting for its Glutamine witch creates Gaba. was doing better but not 100% was having bad PMS which he helped me with Femme Premnstrual this has been amazing No PMS symptoms at all. I was doing quite well but having a dip just on my period for a couple of months lasting a couple of days, it was then the nautropath decided to try methylation Folinic acid 2 capsules 2 times a day and NAC take twice a day, the first day of this process I got headaches but the next day I felt terrific and continued to do so over the last 3-4 weeks he then suggested that if I felt so good it was time to start reducing Effexor which I did 5 days ago but only by 37.5mg, the last 2 days my mood has dropped again aswell as feeling lethargic with some anxiety symptoms. Very frustrating. I spoke to him this morning, I mentioned could we be over methylating? he didnt think that was possible and is adding some herbs until I can get the pre Gabba and we can get some stability again. My diet is pretty good, lots of protein, vegtables, etc.
    I feel dishartened as I felt I was on the righ track, maybe I needed to wait longer to feel stable on Antidperessants, I have been on them way too long I know that and feeling that maybe I will never return to my old self , I felt so good so any ideas what you think may be happening? Would appreciate some support or ideas.
    Thanks so much

    • Matina says:

      Hey Sam!! Just a note to encourage you that you are not alone. I don’t have any answers or even advice for you as I myself have been one of the unlucky ones with going to natural route since I stopped my medicine six years ago. I have bad reactions to everything now because I am ultra sensitive. I battled with undiagnosed anxiety and depression for years. I made a mess of my life because I was so impulsive, panicky, or just depressed. I did a fine job of covering it up in my mid twenties and tried like crazy to be ‘normal’ like those around me. Long story short I did eventually go a medicine for severe anxiety and panic; which brought me out of my unknown depression. For the first time in my life I could function without worry, anxiety, panic and even worked and had a wonderful life with my family. Then I stopped the medicine because of some weight gain and the stigma of being a medicine. While on it I never obsessed about all of this; but now this is all I do and I have absolutley no life except reseaching how to feel well; and what not to eat or drink; and running back and forth to different doctors and natural paths for answers. My husband is the only one working now because I can’t anymore-too unstable with my depressive moods.

  • Susan says:

    Sam, It sounds like you have found a naturopath with whom you can work. What I can add from experience is that diet has a lot to do with anxiety. Keeping the histamines and glutamates in your diet low should help. The symptoms of over-methylation for me are very similar to high caffeine consumption. I feel jazzed up with nowhere to go. When I had that reaction after taking a methyl-folate 400 mcg capsule, I felt odd and had my vision affected while driving. I found some B-complex containing niacin in town and after taking one capsule, my vision returned to normal and I was no longer jittery. After that, I started working with the nutritional therapist who addressed gut issues first. Now I am taking more methyl-folate without having problems. When I awaken and feel shaky, I take minerals to stop the shakes. Apparently I am using up my mineral reserves overnight while detoxing. When I have insomnia, it usually relates to having eaten histamines or glutamates. It sounds like you are on the right track, but may need to look at some other areas as well. Backing up to doing what made you feel best may be worth considering. Good luck.

  • Heather says:

    Hi Dr. Ben,

    The first week I took methylated B vitamins with folate under the careful supervision of an N.D., I had a profound detox reaction despite my “piddly” single mutation of A1298C. I peed dozens of times a day. In fact, my kidneys swelled, they were working so hard to detoxify me. I also had to do my business about 7 to 9 times a day for a week and I got conjunctivitis. Why am I sharing this appalling information? I wanted you to know that after that week, it stopped, my head got clearer, and I was able to drop my ADHD medication dosage 50%, after having dropped it 25% with a GF diet (I’m Paleo now). I wanted you to be aware that even with the “BEST” of the MTHFR mutations, it was having a profound effect on my life, and my body worked overtime to get rid of decades worth of toxicity.

    Have a nice day! Thank you for the work that you do. I had no idea until about 2 years ago what an impact a mutation was having on my life.

    • Sue McGee says:

      I take L-Methylfolate (Folic Acid) and Vitamin B12 injections weekly, and it has done ZERO for my health. I don’t know what to do.

  • eddie says:

    Hi Dr. Lynch.
    Recently I’ve been tested for MTFHR mutation and my results were compound heterozygous 1298C and C667T ( The numbers are correct, but may have interchanged the letters). In addition, my blood mercury levels were near toxic levels (18u/L I think), but is currently at the upper end of normal (10 u/L). On Monday I turned in the 24 hour mercury test to evaluate for mercury types (non-organic vs organic). Where can I get more information regarding compound heterozygous and what can be done to alleviate the long list of symptoms, the most bothersome is polyneuropathy and insomnia. After seeing the neurologist for over a year and the numerous tests, we are now investigating MTHFR… lots of contradictory information and I need assistance finding additional resources to address my many miserable symptoms. Thank you so much,

  • Tim says:

    I have a single snp A1298C mutation and have severe fibromyalgia and react violently to methylfolate supplementation. Thus, there is some connection. Would niacin be a good try?

  • Cindy Balko says:

    Two months ago I had cervical disc replacement that left me paralyzed on the left side. They found a hematoma and took me back to surgery 8 hours later, going in through the back of my neck this time, to remove the hematoma. I am still in physical therapy but they can’t do an MRI (government hasn’t approved it yet with this type of disc replacement) and only had a CT scan done to see if I also had a stroke during surgery. I was sent for bloodwork and it came back as positive for one copy of the A1298C variant, heterozygous and normal for C677T variant. If I were to have symptoms based on these results, what would they be? Am I at a higher risk of anything? Also, does my family need to get checked as well?

    Thank you for any information you can give me!

  • Joe says:

    Hi Ben and fellow MTHFR People,
    I suffer with AS, CFS, FM, sleep apnoea, breast cancer, and am Hetro to C677T and homo to A1298C oh boy it is a mine field.
    Both my parents are obese with high blood-pressure and arthritis, my grand parents had cancer, parkinsons and cardiac problems and now I fear for my sons.
    My GP seems to be on to the MTHFR protocol however confuses me no end. I would like to think i should have a small insite to this as im an RN but i dont have a scooby, i think maybe i also have over complicated matters, please someone tell me what i should take, hopefully your answers will help me and others like me
    Joe x

  • Lydean says:

    Dr Lynch

    My Down Syndrome daughter 14 years is positive to heterozygous C677T and A1298C.
    What should I be doing and what does this mean. Also I have a 17 year old son who was diagnosed with mild scoliosis and a 12 year old that has anxiety OCD and some learning difficulties.
    Also for me I suffer with bad migraines. I am a social drinker and everytime I drink wine end up with a migraine and very sick is this the preservatives in the wine as I don’t have this problem with vodka. Any advice so I can put my family on the right path to wellness thank you..

    • Dr. Aron says:

      Hi Lydean – You’re doing the right thing being proactive with your health and reaching out for help. Our recommendation is to establish care with a provider you trust who can do a thorough evaluation and workup for you and your family. You can start by looking at the Physician Directory to find a doctor in your area:

      It may take some searching, but this is the best next step. Please come back and let us know if the Physician Directory was helpful or not.

      There is a lot of information on this site, so you may also want to see Dr. Lynch’s Basic Protocol to get an idea of how he would work with patients:

      All the best,
      Dr. Aron

  • Melissa says:


    I was just told this was my gene mutation. I have had two DVT’s in the left leg. One in my thigh and the other behind my knee. I had a miscarriage in April of this year. I have had two children, whom my doctor (hematologist)said didn’t need to be tested of this mutation. I had a molar positive pregnancy also back in 2006. I am also Rh negative. My concern is the indifferent facts on what caused my DVT’s because as of now there is none known cause. The main concern is also MS due to a strong maternal history of this. If I need to be tested for this I would waft to know right away.

  • Victoria M. says:

    Hi Dr. Lynch, I have 2 single copies of heterozygous C677T and one copy of A12C. Also have active EBV/AF/CFS. Surely have candida issues too. My NP moved away that disgnosed me. Could you please let me know die to/nutrition, etc. protocol so I can feel better and keeping healthy please? Thank you so much for any help!

  • Alex says:

    I am trying to figure out if my wifes results are abnormal and could be a cause of her infertility and miscarriages.

    Results are as follows:

    MTHFR – A/C
    MTHFR 1298 A/C

    Any thoughts? the more i read, the more confused I get…

    Thank you

  • Leslie says:

    Ann – thanks for the suggestion. I asked the dr about leaky gut and she said diet is the way to heal if I do have it. I am sticking with HOPE program so that will help.

    I tried a gluten-free diet for a few weeks and did not notice a difference. After that I was tested for gluten allergy and it was negative. Since the supplements seem to make all the difference until I ran out, I think that is the key. I am back on everything now and starting to feel right again.
    Thanks again for your help!

    • Ann says:

      You can be a non celiac but have gluten sensitivities. Have you had a blood test for the HLADQ2 or 8 gene? Something to think about.
      I had terrible anxiety as a young teen and allergies and headaches. I think it was due to not eating a nutrient diet back in the 60’s and 70’s, no probiotics or fermented foods to help my gut flora.
      Anyway, just trying to think of things…I am heterozygous A1298C with many other snp’s….but not the 677T? (can’t remember the numbers).
      Hope you continue to feel better.

  • Autumn Casiglia says:


    I have little purple dots, broken blood vessels all over my inner thigh and inner arms and chest. It is hard to swallow and my mouth is swollen. My hair is falling out and it is dry. My belly is very bloated and my legs are swollen.

    I have Heterozygous A1298C. It is difficult to know what is causing the symptoms. Recently I have developed depression and anxiety.

    My doctor said my labs have never looked better, but I feel miserable.

    DMG 2 day:
    B2 50mg
    Folate 5- Methylfolate (Quatrefolic) 200 mcg
    Vitamin B12 6 mcg
    Dimethylglycine 150 mg
    Choline 50 mg

    I stopped shots Methylcobalamin 1000 mcg 1 time week. (just got busy and forget)

    COMT H62H
    COMT v158M
    MAOA r297R
    MTHFR A 1298C

    Do you have any recommendations for me? what might be causing little purple dots?

  • Todd D says:

    Dr. Aron,

    I am homogenous 1298c. Dr. Lynch has listed hand tremors as a symtom wich I have (they are almost gone due to treatment and following his protocol. Anyway, I simply wanted to know what causes the tremors?


    • Dr. Aron says:

      Hi Todd – I’m happy to hear that your tremors are almost gone. If I knew exactly what caused tremors, I’d probably have a Nobel Prize! However, I can hypothesize that dysfunction or imbalances in methylation can influence hundreds if not thousands of physiological and biochemical processes upstream and downstream–which includes the nervous system and neurotransmitters. Tremors is a result of the brain not communicating effectively with the limbs. The body is so much more complex and amazing than we could imagine…I wish I could provide you with a more satisfying answer!

  • Lj says:

    Hi Dr,

    I am diagnosed with MTHFR A1298C homozygous.After 3 miscarriages, i am pregnant again. My Dr. has prescribed me fabb tablet ,aspirin & Lovenox .My lab results says the below

    “Two copies of the A1298C mutation were identified. Results for the C677T mutation were negative.Elevated homocysteine levels have not been reported when
    two copies of the A1298C mutation have been found”

    I wanted to know whether taking fabb tablet is enough to overcome the risk of this gene mutation. Also would like to know whether Lovenox will cause any harm to fetus as i am reading in many forums that it can cause autism.

    This is a precious pregnancy for me and i am very much worried.
    Hope you will reply to this.


    • Dr. Aron says:

      Hi Lj – the FaBB tablet contains pyridoxine hydrochloride (Vitamin B6), folic acid, and cyanocobalamin (one form of Vitamin B12). Dr. Ben feels strongly that folic acid and cyanocobalamin are suboptimal forms of folate and cobalamin respectively. From what I could find on Lovenox and pregnancy, I’ve read statements like “possibly safe” and “insufficient data” for nursing safely, so it’s better to approach with caution. This protocol is pretty standard for any female with recurrent pregnancy loss (RPL).

      This article on RPL can give you some insight into this:

      I recommend reading Dr. Ben’s prenatal supplementation article here: and then discussing these options with your doctor. If you need a second opinion, you can also search the Physician Directory for providers who have completed training through Dr. Ben’s teaching institute (SHEI – Wishing you the best!

      • Lj says:

        Thanks for the reply Dr.

        I discussed with my health care provider and she told that i can switch to L-methyl folate along with my one-A-day prenatal vitamin. I have ordered L-methyl folate from seeking health which appears good.Hope this will be fine

  • Becky Ness says:

    I have been taking the Seeking Health supplement with 1000 B12 and 800 folate. I had my blood work done and now my b12 is too high (1180) and My folate level is >21. Am I taking too much? Can this hurt long term? I am Hetero C677T and Hetero A1298C. I have no symptoms prior to taking it or while Im taking it. I am taking it because my Homoscysteine is 12.4 even after supplementation.

  • Cindy Balko says:

    Two months ago I had cervical disc replacement that left me paralyzed on the left side. They found a hematoma and took me back to surgery 8 hours later, going in through the back of my neck this time, to remove the hematoma. I am still in physical therapy but they can’t do an MRI (government hasn’t approved it yet with this type of disc replacement) and only had a CT scan done to see if I also had a stroke during surgery. I was sent for bloodwork and it came back as positive for one copy of the A1298C variant, heterozygous and normal for C677T variant. If I were to have symptoms based on these results, what would they be? Am I at a higher risk of anything? Also, does my family need to get checked as well?

    Thank you for any information you can give me!

  • Becky Ness says:

    Please answer my earlier post. I am buying your products but am so nervous I am taking to much!! Help! See below:

    Becky Ness July 22, 2015 at 10:02 pm # Reply

    I have been taking the Seeking Health supplement with 1000 B12 and 800 folate. I had my blood work done and now my b12 is too high (1180) and My folate level is >21. Am I taking too much? Can this hurt long term? I am Hetero C677T and Hetero A1298C. I have no symptoms prior to taking it or while Im taking it. I am taking it because my Homoscysteine is 12.4 even after supplementation

  • Becky Ness says:

    Please answer my earlier post. I am buying your products but am so nervous I am taking to much!! Help! See below:

    Becky Ness July 22, 2015 at 10:02 pm # Reply


    • Matina says:

      Dear Becky,

      I am sorry no one answered you post. I am not a doctor or anything of that sort; just another person struggling to feel better. I have the same mutations as far as the compound heterogeouz; and also did order the Seeking Health b12 /Folate supplements. I have not been able to take more than 1/2 once a week due to side effects; possibly from my AD.

      Here is my suggestion/s:

      Don’t try to treat your health issues by yourself.

      See someone who is familiar with MTHFR. Usually a well known natural path does has some knowledge. If not; then look up one that will be near you in Dr. Lynch’s resources here.Many have taking his training as I understand.

      They can use some of the different types of labs to check your serum levels for B12 and folate. Not all base Labs are accurate though so there are other ways they can determine B12 and folate levels for a baseline treatment.

      If you are not having any side effects from the supplements that is good. But…not everyone needs the same amount of the folate or B12. Sometimes too much is not good and too little is not good. We are all different in our tolerance levels.

      I read that Dr.Lynch himself only takes ‘one’ of the b12/folate a week; and more if he has a conference or something-probably for the energy and clarity, I don’t know.

      I hope this helps you feel better to know that at least someone is out there. : )

  • Marilyn says:

    My daughter was just diagnosed with homozygous 1298 after spending a week in the hospital with what they thought was a stroke. She has complex migraines that present as stroke like symptoms, eye closes and hand tremors. Her older sister also has complex migraines, her doctor calls them familial hemiplegic migraines. I was diagnosed with a clotting disorder where I build small blood clots and also a Pseudotumor cerebri and live in a constant dizzy fog and headache. My brother has PKU as well as 2 cousins. It is interesting to me that you note the importance to limit foods containing Phenylalanine. I am having all my children tested for this condition. Any Ideas or help would be greatly appreciated. Thanks — Marilyn

  • jenny says:

    Dear Dr Ben

    Just came from my Doctor and confused now. I tested positive for A1298C and not for C677T. Reading about this A1298C do not have elevated homosytien levels. Though my homosytien levels are 18.4. This is confusing since the data states differently for that particular gene.

    Would you please be able to clarify.

    Many thanks

    • Dr. Aron says:

      Jenny – Having either polymorphism (MTFHR A1298C or C677T) does not necessarily cause high homocysteine. For some, homocysteine levels can be normal. Common causes of elevated homocysteine can include folate deficiency (which can be influenced by MTHFR status) and/or B12 deficiency or there could be lab error. Your doctor should help you investigate these other possible causes.

  • samya says:

    Hi Dr Lynch,

    Wow! I just got my lab results back, I’m homozygous A1298c and reading through your list of symptoms and conditions I was amazed of how many of them do match.
    Muscle pain, irritable bowel syndrome, fibromyalgia, chronic fatigue syndrome, memory loss, headaches, brain fog, low serotonin, chronic migraine, recurrent miscarriages.
    Since you said you are still adding to the list, there are a few more of mine I would like to suggest and ask if they might be related to the MTFHR mutation: Anxiety, Narcolepsy and Sjogreen’s Syndrome. Also, I would like to ask if you believe they could improve with the right life style changes and right supplementation?

    On another note, my 11 years old son was recently diagnosed with Autism Spectrum Disorder, and that’s how I’ve learn about MTFHR, he tested only heterozygous for A1298c, but we decided anyway to add the right supplements and change his diet to gluten-free, no artificial dyes or preservatives, organic, mostly dairy free. We also stopped the horrible ADHD drugs (that was his only diagnoses before) we had been trying to make work for so many years. He is doing much better now.

    Thank you so much,

    • Dr. Aron says:

      Hi Samya – In short, the right diet and lifestyle and supplementation, are very important and can help improve your symptoms. Lifestyle and diet are the foundation of health. Without this, even the right supplements and medications can only do so much. You may want to read Dr. Lynch’s Basic Protocol for ideas to incorporate into your life. This would be a great conversation starter with your physician.

  • Colt says:

    What do you do for the pain caused by this?

  • Rob van Dijk says:

    Dear Dr Lynch,
    Being a practitioner who’s looking a lot in the biochemistry and DNA I still wonder how there can be a correlation beteween A1298C and BH4. Getting my info from db’s like and brenda-enzymes the connection I see is [MTHFR] ==> 5MTHF ==> (via MTR/MTRR) THF ==> (via DHFR) DHF ==> ==> BH4. Another pathway is that a lower MTHF-actiivty leads more Methylene-THF via TYMS to DHF, and then to BH4.
    To be short, one or another, there are at least two other enzymes in between.
    Of course a MTHFR-mutation indirectly influences its surrounding processes, but I can’t see why it would be limited to A1298C only.
    Also in Pubmed I could not find anything about a link between A1298C and BH4.
    Do you have any other idea how a A1298C – BH4 link could be explained?
    Regards, and please go on with your great work,

  • c says:

    I would like to add that my son has the A1298C mutation and his symptom is restless leg syndrome. W treat this successfully with L methylfolate. I also successfully treat my RLS with methylfolate but I have not actually had the blood test done for MTHFR.

    Something I wonder about is that my understanding is that people with the MTHFR gene mutation (any of the mutations) cannot properly absorb folic acid. Is this correct? If so, I am confused as to why this on its own isn’t a cause for concern. Can you please let me know if I am correct about folic acid assimilation. Thanks.

    • Dr. Aron says:

      C – MTHFR gene variations make it difficult to convert folic acid (synthetic form) to 5-MTHF aka 5-L-methylfolate (the active form of folate found in food.) Taking folic acid would then be a cause for concern in those who have MTHFR gene variations. So the best way to get methylfolate if you have a mutation is to eat plenty of vegetables (especially leafy greens) and supplement as necessary. Hope this helps!

  • Cathy Freeman says:

    I’ve got the MTHFR A1298C mutation. I found that 10 mg methylfolate with cofactors was able to surpress PTSD that I was dealing with upon learning I inherited a very rare cancer that my father died of called SDHB deficient tumors (my tumors are gist, dad’s were paragangliomas). Have you come across any information about a mutation of the “Kreb’s Cycle (Complex II) and MTHFR together being a combination that could cause tumors/cancer? SDHB is transformation 6 in the Citric Acid Cycle. It is a tumor suppressor gene that is missing thus tumors grow (I’m on my 5th set of mets) . . . I’m wondering if MTHFR is a 1 2 punch for my rare cancer then is there anyway to repair the MTHFR mutation? Is the best bet sticking with methylfolate supplements?
    1. Have you come across any other MTHFR causing cancer?
    2. If there is a second mitrochondrial gene mutation is there any advice on how to get the most energy while dealing with two non-energy producing mutations?

    My tumors don’t react to any chemo agents, TKIs, RKIs, and I’ve got my fifth set of mets back in my liver (3 years ago 2/3rds of my liver was removed for tumors. The liver grew back. Apparently the tumors did as well. Thanks

  • SUZAN says:

    Hi Dr Lynch,
    3.5 year old son got the MTHFR A1298C mutation. We use your L-5-methyle folate 1mg. (day 1) Children living with this mutation or post your suggestions for you available? Methyl folate does lifelong should be used?
    Thank you.

  • Christy says:

    I had a lot of trouble conceiving 5 years ( 3 miscarriages) and until I went on organic ;low toxicity life style; supplementing with L-Methylfolate and food base prenatal vitamins I was able to conceive and carry full term. ( within 3 months)

    now I have twins!! I am homo 1298 and my husband is homo 677:

    We are testing our babies which we know will have one of each.

    My question is: None of the doctors in Puerto Rico know about MTHFR ( NONE) i have been everywhere. They dont take our situation seriously. NOW I am so afraid of the vaccinations. Its practically mandatory and registered unless a Doctor writes an exemption which states reasons it can be harmful.

    We have found a pediatrician that is interested in the case and is willing to do it if I send him good studies and reports to back it up. He is also interested in learning about this mutation.

    MY question what studies and specific links you can recommend in terms of adverse effects of MTHFR and Vaccinations / I know the mutation its heavily linked to autism with this. Mainly because of the heavy metals and the lack of Mthfr gene to expel the metals.

    Thank you so much! Really hoping you can help me out. Very scared.

  • Shannon Kaarstad says:

    Hi, I don’t know if I’m going to be asking questions already asked but I am a Compound Heterozgote I just found this or about a month ago. I live in Nebraska & there is literally NO drs that specialize let alone know how to deal with this disorder. I’m in desperate need of help as my health keeps speaking downhill fast. I have 4 amazing kids am married. I keep getting told my symptoms are in my head and that I’m addicted to pain meds BC muscle relaxers won’t work and half the time pain pills won’t either I’ve been dealing with this since I was 20 in 31 now and have been to multiple drs they said I had adhd at age 31 and keep getting told I’m bipolar when I only have anger outburst when anxious and a psychologist told me I wasn’t bipolar which is why they did the gene map that showed the 677 &1298 mutations I also have the gene disorder called Ultra Rapid Metabolizer.I can’t take this anymore I’m not crazy I knew more was wrong but my regular physician keeps saying I’m bipolar and refuses to listen. I hate life I never know which day or second or minute I’m going to feel symptoms they happen to me every 5 minutes panic attacks here’s my symptoms: my eyes dilate under stress, I get random temp blindness since 16, cannot deal with stress well,restless, can’t focus, feeling sad but knowing it’s for no reason, panic attacks, insomnia, random muscle-nerve-joint pain, sleeping 6-7 hours but waking feeling exhausted, muscle weakness walking up stairs can be hard, irritable bowel as well as inflammatory bowel, bad indigestion, irritability, anger, racing thoughts, tongue tied, no memory, interstitial cystitis, hyperthyroidism, I can’t take certain meds BC I’ll have a bad reaction including anti depressants will put me in a full blown panic attack as well as most the meds they’ve made me try. I’m doing everything I can to listen & get healthy but BC I look healthy the drs say I’m making it up nobody would make up feeling this way unfortunately there’s not a single Dr I know here who will listen and help me and I have no money to travel to the good drs PLEASE SOMEBODY HELP ME ANY WAY YOU CAN I MISS WAKING UP HAPPY I MISS SMILING AT MY KIDS I MISS OUR ON SO MUCH WHICH MAKES ME DEPRESSED IF MY HEALTH WAS GOOD I WOULDN’T FEEL AS DEPRESSED. I can’t live life this way anymore it’s not fair to my kids but I love them so much that I don’t end my life BC feeling their love and being able to be their mom and help t them grow, learn love is worth the suffering I’m enduring unfortunately it’s starting to get the best of me and I don’t know how much longer I can hang on for help they put me on 15mg Deplin straight off the bat and that sources my symptoms in to overdrive THESE DRS HAVE NO CLUE WHAT THEY ARE DOING!!

    • Christy says:

      Shannon Kaarstad:

      I have found the answer to my previous question which is on top of your post.­and­vaccinesimmunizations­contraindicated/

      So you can keep Searching and somewhere the question will be answered.

      It has been a blessing finding out about MTHFR: Even though No doctor knows about it or takes it seriously you have to take action on your own.

      Thats how I was able to get pregnant after 5 years trying.
      Now I have a baby that i a compound like you and have to keep reaserching.

      Your story sounds like my mothers which is a Homo 1298
      She has had Crazy amounts of stress since the death of my father when I was 2yrs. Being then a widow mom, she has always suffered health issues: hysterctomy, Thyroid cancer, fybromialgia , extreme fatigue and surgery back replacement. highblood Pressure / medications. Now has kidney nodules. She couldnt deal with stress she would real anxious and volatile. BRAIN FOG

      And it just all makes sense:

      Its been a life long of getting tons of toxins / medications and no way to expel them because our mutation doesnt allow it because our enzyme is a different shape.

      Since I found out ( because of my miscarriges problems we have started doing what we can and feels a world of a difference ( shes stopped taking all of her pain meds and slowly is getting her happiness back)

      What did she do:

      1st she took her mouth almalgams out ( which were metal looking- mercury/aluminum) With a holistic dentist ( there is a special way to take them out)

      2. Went to a Doctor and is getting chelation to release the life long burden of heavy metals there is no other way to do this it builds up in your Brain/ thyroid and kidneys

      3. Trying to only purchase organic foods / not using any plastic or heavy metals in the house

      4. MOST important seeking health Brand B-complex + the seeking health Multivitamins / She also takes Royal Jelly

      5.NO GLUTEN

      6. NO processed foods

      7. as much as we hear this we sometimes dont believe it …but when you can see the positive impact it causes on your health and my mothers and babies…you just have to rave about it!

      8. We are not using anything that is not organic on our skin or that contains any chemical petro products as these are hormonal mimickers and our mutation has a problem with these also ( hence the whole thyroid cancer)

      9. No detergents

      10 Its been quite a radical life style change ( but she has been able to stop most of her meds including the high blood pressure medication )

      She has done this with a Holistic Oncologist that does chelation ( even though he is not an expert MTHFR he understand the methylation impairment.

  • Samantha says:

    It’s inflammatory bowel DISEASE not SYNDROME.

    • Dr. Aron says:

      In this case, Dr. Lynch is referring to IBS = Irritable Bowel Syndrome, which can be easily mistaken for IBD = Inflammatory Bowel Disease (Ulcerative Colitis and Crohn’s).

  • Krista Margolis says:

    Hello! I am a women’s health NP and have been practicing functional medicine for the past few years. I have been a women’s health NP for over 15 years. I have had several people who are negative for C677T mutation and homozygous for A1298C. What are the top recommendations for these people? Thanks.

    • Dr. Aron says:

      Krista – The top recommendations for these people really depends on looking at these folks as individuals. Dr. Lynch has written a Basic Protocol with many things to consider when working with those with MTHFR gene mutations. If you are interested in further clinical training, I recommend exploring where Dr. Lynch has clinical training conference recordings and upcoming action-driven conferences. I also recommend studying the wealth of other articles on this site, which will give you a lot of treatment ideas.

  • Michelle says:

    Hi. I’ve not had any formal testing done. I downloaded my Nat Geo GENO 2.0 data and ran it through Promethease for medical information and I found this. I am not sure if this is
    part of the MTHFR genes. I realize the data from Nat Geo is just SNPs. I was hoping to find the info I needed from my Nat Geo data without having to undergo further testing. Please advise.
    Thank you.


    more …
    58% Frequency
    0.2874 GMAF
    10 References
    GCH1 Gene
    14 Chromosome
    54912273 Position
    20150107 Rs time
    plus Stabilized
    plus Orientation
    Topics GCH1 NatGeo Tetrahydrobiopterin

    • Dr. Aron says:

      Michelle – As much as we would love to help you, the best course of action is finding a provider who can work with you individually. Please see the Physician Directory to search for a doctor in your area who has completed training with Dr. Lynch. Providing any suggestions based on just this information would be guessing, and guessing would not be in the best interests of your safety and health.

    • Lynn_M says:

      rs8007267 is part of the GCH1 gene and is not part of the MTHFR gene. When I did a google search on rs8007267, it appeared to have a bearing on pain sensitivity issues and response to SSRIs. Look here to see some of the research. 58% of Europeans sampled in demographic testing have the (C,C) allele, so C appears to be the wild (“normal”) allele.

      The primary MTHFR SNPs of interest are rs1801133 C677T (A=T is the risk allele) and rs1801131 A1298C (C=G is the risk allele). Maybe you can search on your Nat Geo or Promethease results to see if it gives data for those SNPs.

  • Michelle Dillon says:

    Dr. Lynch-Do you still believe that heterozygous A1298C mutation by itself is not significant? My C677T was normal. I am 46 and have been ill since I was 18. I have Lupus, RA, Fibromyalgia, CFS, chronic anemia, Bipolar, Anxiety, insomnia, IBS, Hashimoto’s Thyroiditis, cervical dysplasia, and I had papillary thyroid cancer at age 38. I have severe fatigue, brain fog, muscle pain with weakness and facial twitching when I smile, migraines (no aura) several days per week, and numbness and tingling in my face and feet. My mother and grandmother also had Lupus. My mom died of a heart attack and bladder cancer. My GM died of a stroke. I have very high cholesterol levels since age 18. My sister has Lupus. I am searching for answers to obtain better health as I seem to be worsening despite treatment for Lupus. Thank you! Michelle

  • Heike says:

    This is the result of my daugthers test, would supplementation help and what is the dosage for a teenager? Thanks

    MTHFR 1298A>C CC
    Homozygous Mutant
    MTHFR 677C>T CC
    No Mutation
    The patient carries two MTHFR A1298C mutations (homozygous) and no MTHFR C677T mutation. MTHFR enzyme activity is reduced (60% of normal activity).

    • Dr. Aron says:

      Please review Dr. Lynch’s Basic Protocol. Dose depends on the person. In general, start low and go slow. Assess how your daughter feels and make adjustments accordingly. Dr. Lynch has found that fixed dosages are not always the best with supplementation. You’ll find this podcast on “How much to take?” helpful.

  • Jason Tyner says:

    Hi Doc,

    I recently took a pharmacogeniecs test to assess the efficiacy of psych meds for my treatment.

    The test results show 3 columns: the gene itself, the genotype, and the predicted phenotype.

    for MTHFR, the Genotype given is C/T (C677T), A/A (A1298C), the predicted phenotype shown is reduced activity (RA)

    In light of receiving these results, my shrink prescribed Deplin 15mg, which I’ve been taking for about 3 weeks now. So far it seems to be helping, however after reading your blog I’m questioning if I have the compound heterozygous gene for MTHFR and if so, whether there’s a certain supplement, medication that would be good to ask my shrink about. Any input would be appreciated.


  • Heather says:

    My daughters results say: C677T: Homozygote Wild and A1296C: Heterozygote. What does this mean?

  • Tracy says:

    I just found out I have 677 T/T, 1298 A/A. I’m not sure what it means. Do I have both types? I wasn’t getting pregnant so I thought I might have a clotting disorder after fertility treatments. Now I know, just found out and I’m kinda freaking out. I also have inflammation markers. Thanks so much for your help, Tracy

  • Jen says:

    Hi. Reading through the comments has been pretty informative. I have a question for you. For the last (almost) 30 years I have been having a ridiculous constellation of symptoms build and intermittently bother me. Everything from fibro, muscle pain, idiopathic hypersomnia, periodic insomnia and trouble staying asleep, cold & flaming hot skin (especially on my thighs), brain fog, IQ scores that go up and down (146 to 109 to 120), social impairments that I work very hard to hide, intermittent exhaustion when I push myself (sometimes leading to my muscle energy bleeding out until I am on the floor) and sometimes severe physical exhaustion that I just wake up with, high estrogen, then early menopause (I’m 47, no period for 2 years). Recently I was diagnosed with hashimotos hypothyroidism (I’m on .88 synthroid and .25 T3). Then life-threatening idiopathic angioedema and idiopathic urticaria (for which they are getting me on xolair because the other treatments don’t work). Then I was diagnosed with orthostatic hypertension and sinus tachycardia. And then IGG deficiency (also 3 of 4 subclasses are deficient, one is low normal). I looked at my genetics and saw my methylation pathway has quite a few mutations 14/19 snps are mutated and 5 of those are double mutations.
    homozygous mutations
    MTHFR A1298C
    COMT V158M
    COMT H62H
    MAO-A R297R
    MTRR A66G
    heterozygous mutations
    MTHFR 03 P39P
    VDR Bsm
    VDR Taq
    MTR A2756G
    MTRR A664A
    CBS C699T
    CBS A360A
    My iron goes from being quite high (50% saturation) to deficient (10% saturation). I have chronic low D3 – I’m on daily 5000 ui now, after getting megadoses for 3 months (again). And they found my arsenic levels were high as well. My immunologist just found B & T cells are low, but the ratios are ok and my C4 complement level goes up and down between normal and deficient. My doctors treat me like a hypochondriac, so I’ve stopped seeing most of them. I am on l-methylfolate 15. However, I am now wondering if I could stop the 30 year slide.. maybe even reverse it with better supplementation? All of my blood tests are normal or close enough that the doctors think everything is fine. But I know serum levels don’t tell the whole story (as they don’t with mthfr mutations and serum folate). The genetics counselor said they don’t look at mutations in combination with other mutations and they only consider things that are now standard practice to look for (not, for example, methylation pathways). Is it just too crazy a constellation of symptoms? Should I just bag it? Or do you think it might be worth pursuing? I don’t know enough about the pathways to know what goes to where to know if all of this might be related or correctable with supplementation. And, to be honest.. after 30 years … I’m almost too tired and disheartened to keep trying. I realize this exceeds mthfr mutations.. but you talk about other things to consider when dealing with mthfr mutations and how common some symptoms/illnesses are with these mutations.. so I thought it worth asking. I feel like I’m the little dutch boy plugging holes in the dam with my fingers (prescriptions) rather than addressing the root of the issues. ?

  • Shane says:


    I had a lab tests done by Health Diagnostic Laboratory and have MTHFR (A1298C) mutation. The lab test says A/C which I believe is heterozygous. Homocysteine was measured at 15 and another lab had it at 13. I don’t know if that part of the lab was done correctly from reading how to measure homocysteine and doing it properly on this site. Currently I am taking the systemic formulas products. MORS, CVO. Family history is high BP, Cholesterol, etc. All my levels are also elevated. HDL was measured at 82 on this lab. Everything I am reading is that MORS might be a one way approach rather than an individually tailored approach. Is there a good guideline or process for heterozygous MTHFR A1298C individuals with regards to daily supplementation? I did just recently purchase MTHFRade. I just read that should be taken first thing in the morning ensure cells properly function. This is a maze and would like to see something mapped out. Please let me know your thoughts. Thanks! Shane.

    • Tracy says:

      Shane, your homocysteine sounds like it is at the high end of the normal range. Get your B12 tested (and also MMA, methylmalonic acid) as low B12 can cause homocysteine to be elevated. Elevated MMA can confirm a B12 deficiency. Elevated homocysteine can have several causes so it is not definitive.

      If your B12 is within the low end of normal range (400 pg/ml or less), you still need B12 treatment as traditional doctors are working with an outdated standard. Some labs are now including a warning about this with the results. Naturopathic doctors generally are more aware of this and will begin treatment where traditional doctors will refuse.

  • Ann says:

    I need help with this question. Can someone tell me if it is true that there’s a gene snp that affects whether or not a person can eliminate mold toxins from there system? Some MD told me that there was a while back. Perhaps the doctor can comment on this?
    My holistic doctor doesn’t believe its related to the MTHFR issue….but I am concerned the its gene related in the liver. I am also nutritionally deficient because of the fact that western medicine didn’t acknowledge I had candida and it became systemic in my tissues. I am very ill as a result and hanging on for dear life.

  • cassie says:

    I have had life long illness! I have been on the search for reasons for my illnesses such as Tiredness, depression, brain fog, anxiety, migraine aura, panic attacks, chronic super powered infections, stroke during pregnancy, heart populations, easily fractured bones, low tolerance to medications, IBS, dizzy spells, fainting, super high blood pressure when I was younger / below average blood pressure now and chronic anemia … during my search I found I was celiac with a possible diary allergy with elevated MCV… However even though I started my gluten free diet I still found that I wasn’t getting better.

    That is when my doctor check me for the mutation, they found A1298C Heterozigence that I keep reading cause no symptoms… My doctor even said that it isn’t the answer, I find that hard to believe! I did find an article that links A1298C Heterozigence to liver cancer! If any one can point me in the right direction I would be very grateful! I will not give up, I am just tired of people thinking I am a hypochondriac, I have never felt right… you are supposed to have a migraine at 13 years old, panic attacks or infections that won’t go way since you were 5!

  • Anne says:

    My 10 year old daughter was diagnosed with a homozygous A1298C mutation C/C. She is adopted from China and I don’t have her medical history. She is prone to anxiety and gi related issues. She also has severe sinus issues. She is seeing a holistic nurse practitioner at the moment. She has only had the saliva test and no bloodwork at this point. The practitioner is advising we start with seeking health chewable 400mcg. She is also taking probiotic, fish oil, vit d and zinc. Do you feel this is a safe place to start with a child and would you recommend checking blood levels and if so, what specifically? Is there anything else I should be doing (I have read the website and the basic protocol and working toward following that list.). Thank you in advance for your feedback.

    • Dr. Aron says:

      Anne – Those seem like reasonable places to start. I would also take a close look at diet and consider an elimination/re-challenge diet of common food intolerances (dairy, wheat/gluten, eggs, night shades…) that may be triggering her symptoms. Consider environmental exposure in her history–mold, air pollution, water toxicity, heavy metals. It’s hard to know exactly what tests to run without a full history. Consider reaching out to a few doctors in the Physician Directory who have completed training with Dr. Lynch. Dr. Eric Balcavage and Dr. Bernard Zenker are great. Wishing you the best. Please keep us updated on your progress.

      • Anne says:

        Thank you Dr. Aron. I did have her tested for lead toxicity when she came home from China at 10 months and I am working toward the elimination diet starting with wheat/gluten. we have eliminated dairy previously with no change. I believe she was also exposed to mold and of course pollution and no telling what she was exposed to during her time in China and what was in the vaccines they gave her etc.

  • Tanya says:

    Hello. My Dr. ran a panel on me last year from Health Diagnostics lab. My MTHFR (C677T) was optimal. My MTHFR (A1298C) was A/C intermediate risk. She started me on Deplin. My homocysteine was 11. Also my Apolipoprotein E (T471C,C609T) was high risk (not sure that has anything to do w MTHFR)

    I’m wondering if you can give me any guidance. This is so confusing. I’m not sure what I should or shouldn’t be doing.. Esp when it comes to the Deplin and avoiding folate.

    Thank you so much.

  • M Linder says:

    About Nitric Oxide … My husband is the compound heterozygous 677/1298, and his blood pressure is high (homocysteine level high normal, otherwise not one health issue at 69 except for an inguinal hernia, awaiting surgery) – I wanted to have him use NEO40, but then wondered if it’d be a problem, since it is related to Nitric Oxide somehow, even though I don’t see NO on the label – Confused. He took a few of the dissolvable tablets and hated the chlorine taste he got, although the contact at the company says they’ve never run into that issue.

  • Paulette McFarlin says:

    After a second bout of multiple pulmonary embolisms in both lungs, and only being off a blood thinner for 6 months after being on the blood thinner a year after the event, my doctor referred me to a hematologist, who found I have this homozygous MTHFR A1298C. My first bout of PE came when I was 72 years of age. My homocysteine level is also high,13.8 so he has prescribed lots of vitamin B.
    I don’t see any mention of blood clots in your report. Is there a reason for that? I never had any miscarriages, was only able to get pregnant once. My daughter will be turning 50 this year.

  • Erin says:

    HI, I just did 23andme and have been looking through LIvewello reports. I am hetero for 1298C but ok on 677. However I have multiple other Homozygous mutations on other methylation markers (ACE, COMT, SOD3, all FUT2, MAOB, and more.. ) plus several heterozygous markers too. How critical are these in methlyation issues? I’ve had skin issues for awhile, developed multiple food sensitivies, severe mold issues, chemicals sensitivities and histamine intolerance all of which cause the rashes. (hormone issues also) just trying to figure out if methylation could be playing a part.

  • Kindra says:

    I’ve been diagnosed with A1298C, one copy. I do have high homocysteine levels. Also, was told I have high iron levels. Is that normal issue for us? She’s wanting to send me to a hemotolagist. What would you recommend I do?

  • Jodi says:

    I have the A1298C mutation that was diagnosed in 2005. I was taking Dephlin until the insurance refused to continue to pay for it. I have gone on with my life without taking anything except B12 supplement. Now what I am dealing with is, extreme fatigue, diarrhea, weight loss, sweats, swollen lymph nodes, headaches, nausea, daily right side ache with pain in the upper right abdomen. I do not have my gallbladder anymore and I have had more colds in the last 2 years then I have had in the last 10. I have had a gamut of lab work/radiology test and all come back with flying colors that I am one healthy lady….if that is the case why do I continue to struggle with the above symptoms. I live in eastern Oregon and there isn’t a doctor around that knows about this mutation. Now my grandson is having growing problems. a 2 year old that looks like he is 1 in size… they have told the doctor that I have the A1298C mutation but they didn’t know anything about it. Could my symptoms be due to this mutation? Please help as I have been struggling with these symptoms for 2 years now and the docs are making me feel like I am a crazy person and making it all up!!

    • Barb says:

      Jodi, I don’t know if you live never the Tri-Cities, WA but there is a Dr. Smith, NW Integrative Medicine, a Dr, Rawling and a Dr. Karlson here that deals with MTHFR.

  • Crystal says:

    I suffer from recurrent miscarriages. I am heterozygous A1298C, have a partially positive ANA and am positive for Sjogren’s B antibody. I have seen general practitioners, hematologists, rheumatologists, and naturopathic doctors. The naturopathic doctors are the only ones to acknowledge that the miscarriages may be linked to everything in my blood work, but they didn’t really know how. I have had one successful pregnancy and a daughter that is now two. Now, I am having the same problems getting pregnant and staying pregnant as before. In the first trimester of my last pregnancy I was on progesterone suppositories and after reading another article you wrote think that that may be a big factor in my keeping that pregnancy. All the symptoms that you list in this article I pretty much have, foggy brain, migraines, ADD issues, you name it. I was wondering if you have found any link between MTHFR heterozygous A1298C, and sjogren’s antibodies that may account for multiple miscarriages. My blood work done during each miscarriage shows that my progesterone levels drop almost immediately and even with my daughter they went from 27 to 11 in three days before I started the suppositories. Any information you might have on this would be very much appreciated.

  • mdheather says:

    My 14 year old son is homozygous for A1298C. I will be starting him on methyl folate 5 g twice a day. He has ADHD and anxiety and some moodiness. His urine metabolites of dopamine and norepinephrine are normal so his doctor feels it is this defect causing his symptoms.

    How soon after being on the methyl folate should I see a change? How common are side effects? Is there anything else in your protocol?

    I am also a physician and am enjoying learning about this.


  • Sarah says:

    I am overwhelmed. I’ve been told I am fine and having a1298C homozygous is no problem. I have had 2 miscarriages and 3 healthy babies. 22 weeks pregnant now ( first pregnancy since diagnosis). I wAnt to make sure rest of pregnancy is healthy with a healthy postpartum.
    I also have AV reentrant tachycardia.
    I am taking methylated folate with b complex and staying away from foods and supplements with folic acid.
    What else do I do? I feel like Drs think I’m crazy for being concerned since it is a1298c and they don’t attribute the miscarriages to mthfr.

  • Ann says:

    After reading this last post, I am so upset at my mother for drinking alcohol and smoking before, during and after I was born. I have suffered throughout my whole life with methylation issues plus many more things. My mother really didn’t think about what she was doing at all to her children. Now days, she just looks at me and goes about her own life having the time of her life, while my husband and I are struggling to keep our home due to my disabilities. I pray to God everyday and ask for comfort as I have systemic tissue fungus and intestinal fungus growing into me. I am suffering.
    I am so sick of doctors saying we know more now than we did back then (western medicine doctor’s) I feel they are worthless (their limited knowledge) They are at least 30 years behind in their knowledge when it comes to prescribing antibiotics and never telling you to take probiotics, 25 years ago. I took them for one of many genetic defects, Mitral Valve Prolapse. What can I do now? I am just venting…and apologize if I have upset any one.

    • Sheri says:

      Since you mentioned that alternative medicine is ahead of mainstream medicine then I suggest you look into the micro biome. The micro biome is showing that it has more influence than our genes. The micro biome is the latest in alternative medicine. What we eat affects our micro biome. Most success I’ve had with my health issues is to get off gluten, sugar, soy & dairy. I hurt so bad before I changed my diet. The saying you are what you eat is true.

  • Ann says:

    Thank you for the info….my health issues is/are related to the gut micro biome being out of balance for so long then turning into a candida/fungal overgrowth, that is now hyphal and has spread throughout the digestive tract and is now into the tissues. It is showing up in the urine. No doctor wants to put me on an anti fungal because of the liver issues now. Its a real mess….and like I said before western medicine are responsible 25 years ago for not recommending probiotics after taking the antibiotics. How am I supposed to know? I have a severe leaky gut, severe chemical sensitivities from the candida toxins in my system, my pancreas is not working well, my liver isn’t either. I can’t seem to balance the gut flora anymore. I take a whole host of things from digestive enzymes, to Phytostan, to Grapefruit seed extract, Tannalbit, Nystatin. A little of everything. to keep the yeasts in the intestines in check and to keep the spores from spreading throughout my tissue in my body.

  • Sheri says:

    Personally I have done my own fecal transplant. There are some sites online that tell you how to DIY. I used enteric capsules. There is a yuck factor but sometimes desperation overcomes yuck!!

  • Tracey says:

    Your site is very informative. I have just found out my 9 year son has heterozygous A1298c mutation. We are under the guide of a naturopath who has prescribed 2 mg of methyl folate. It helped calm him now now he is wiped with no energy. She mentioned also that he should be taking a metal sweep to remove heavy metals from his system at the same time. Another friend who is a doctor mentioned that he will need ongoing blood tests to monitor him to get the dosage right. I am overwhelmed with conflicting information. Could you please shed some light? I am fortunately clear from the MTHFR however my husband has never been tested. Does that mean his carries the same mutation as my son?

  • Melissa says:

    I have the homeogenis A1298C MTHFR only what does this mean ??? What do I do for supplements and diet ??
    I also have hashimotos and hypo thyroid and on WP thryroid med have gained a ton of weight worst part, fatigued, sore, hair loss on and on
    I have changed my diet to no meat products dairy no night shades gluten wheat low glycemic fruits and I eat salmon fish, sushi, also to RS at night w plantian powder…….I see a funtional MD who tested and found the A1298C MTHFR, my homositine level was high.
    What does this all mean ?? I just turned 60 and have never experienced bad health until all of this about 3 yrs ago w hypothyroid

    • Leslie says:

      Melissa, I know how you feel. The fatigue is debilitating, and never having relief is terribly depressing. Same with the pain. My symptoms got worse after age 55, to the point where I was nearly incapacitated. I finally went to an integrative medical doctor who has a dual MD / ND who ordered testing for MTHFR. She knows quite a bit about treating it – much more than my regular PCP. Please see my posts in May and June 2015 for her recommendations. I had already worked to restore my GI system for several months before seeing her, so could start on the supplements right away. This plan has worked very well for me. I buy individual supplements rather than the prescription, but have not had to change any dosages since starting. I try to limit foods with folic acid, but have no food allergies and have not had to give up foods that others are sensitive to. I did have a setback last fall with a bad reaction to the flu vaccine, and then an internal infection 2 months later. Since then, my joint pain has been worse, but everything else is SO much better. Hair is even growing in thicker. Due to his symptoms I am certain my husband would test positive to at least 1 mutation, but he has not agreed to testing yet. I finally talked him into trying my supplements about a month ago, and he is feeling better with a little more energy. Optimum Health sells a high quality multi that has the same supplements as these plus others, so I am buying that for him. Unfortunately, his PCP is a mainstream insurance-driven western medical doctor. He told us that MTHFR testing is inaccurate and treating it is quackery. I hope you find a good provider who knows how to help you. It is worth the time to read through all the posts here to glean information, and maybe try some supplements. Hope this info helps!

  • Niky says:

    I had a test done 7 years ago with LabCorp, it shows C677T mutation negative , but I have two copies of A1298C mutation. They suggested folic acid, B6 and B12. I been taking folic acid the supermarket brands, I didn’t the difference till I read your web side.The reason for the test was a miscarriage, my obgyn did some blood test and found the mutation. After that I had 4 miscarriages more and developed uterine fibroids, I got a Davinci surgery to remove the fibroids with an excellent doctor, he said try to get pregnant in 2 months and I got pregnant the 3rd month, the only abnormality was that I got too much amniotic fluid, but my obgyn checked the baby and she was perfect, she is 3 yrs old, she has lactose intolerance, but she was okay with my breast milk.
    we had been trying for more babies but nothing till 6 months ago, I got pregnant but miscarriage at 10 weeks, Don’t know what was wrong, My husband and I look at the little baby and look perfect. I had bad memory always, I used mostly logic to go trough school and university, I remember my hands sweating all the time when I was little, like 4 to 7 yo and my parents put baby powder and foot power on my hands and feet, I was very anxious, eating my nails, pens, pencils, paper, plastic. I don’t remember how it got better, but I always have very shaky hands, I can not hold a cup of liquid with one hand, my hair and skin are very dry and I am allergic to many creams and hand lotions. When I was 9yo I got a diagnosis that my thyroid was growing abnormally, I got some little pills and some cream and it stopped and was told to don’t eat cabbage or anything high in iodine. 12 years ago during an abdominal ultrasound the doctor found many little cysts in the liver, but since they did hurt he said is okay many people has cysts, with my 4 pregnancy was found that the cysts where growing and multiplying, 10 cm the biggest, during that pregnancy the fibroids also got bigger and competed for the blood with the twins, I lost one at 10 weeks and the other at 26 weeks, the I had the Davinci surgery .For my 5 pregnancy I used Choline because I read that it was good for the baby’s brain, also use prenatal vitamins , the cysts got smaller and in the last ultrasound are almost gone and nothing bigger than 0.5cm, the doctors don’t know why or how.
    I don’t want to loss more babies and I will like to be able to remember things like a normal person. What do I need to do. I got a prescription for Fobic RF , I started yesterday, is that good?

  • wendy says:

    Dear Dr. Lynch.

    I have been suffering with severe depression and moderate to severe anxiety for many years. The doctors have never been able to find the right combination of meds. that help me. I am currently on 225 mg. of generic Effexor, 150 mg. of generic Wellbutrin and 1 to 2 mg. of Lorazepam daily and still suffer especially from the depression. My therapist at the psychiatrist office recommended a DNA test, and when the results came back it shows I have both the C677T and A1298C MTHFR gene mutations. They prescribed Deplin 15 mg. and I got the prescription today.

    I found your site tonight and am so thankful and also confused and concerned. I also have fibromyalgia. My level of B12 was 300 and my folate was <24. I read questions and answers earlier this evening I can no longer find regarding fibromyalgia and side effects. I don't know how my adrenal function is and I believe the doctor said my thyroid function was low end of normal.

    I understand from reading tonight I should not start on the 15mg. L-Methylfolate. I will get some Niacin in case of side effects and electrolytes. Without having to purchase very much at this point, what is the minimum I might be able to start with as far as anti-inflammatory and other support to minimize side effects? My insurance does not cover the cost of the L-Methylfolate, so the less I have to get right now the better. I routinely have migraine headaches, at least half the days of the month, and take Sumatriptan, which my cardiologist would like me to be able to stop. I have moderate heart blockage, but nothing requiring a stent. I take melatonin 3mg at night. I was taking a PPI for the past couple years and am weaning off of that now, but as soon as I don't take it the GERD symptoms come right back. Would Ashwagandha be beneficial? I am very excited and hopeful that I may be able to cut down on and possibly eventually stop all these antidepressants/anxiety meds. I am also a little concerned about that I don't trigger Seratonin Syndrome. I also take a beta blocker Carvedilol and Prevastatin for lipids and my cardiologist insists I stay on those.

    Will you please be able to advise me on the best way to begin with the least expense?
    Thank you so much!

    • Susan Hildebran says:

      Hi Wendy, I had a horrible year last year with anxiety, depression, heart palpitations and trouble sleeping, but normal blood work. The night that we turned off the WiFi, I slept through the night and realized I had been depressed. If you have WiFi in your house, try turning it off when you are at home and see if you feel better. It is a quick fix if that is the problem. Good luck.

    • Ann says:

      Wendy you need to get to an MD that’s trained in reading the 23andme raw data that has been merged with this website or tree of life’s website. Dr. Klinghardt in Seattle, WA has a team of practitioners that understand the methylation processes and figure out how all of this plays in together with all of your body’s systems. Not always does main stream medicine understand the MTHFR gene defects.
      I have systemic candida/fungal overgrowth that is affecting my defects because I am nutritionally deficient.
      When you take PPI’s you are messing with your gut micro biome and are setting yourself up for a bacterial overgrowth which you already have, which causes GERD and heartburn. You need to go to a GI doctor ro get a bacterial overgrowth diagnosed. You also need digestive enzymes, Betaine HCL to take with your meals.
      Please don’t take the PPI’s as your genetics may not accept them into your system….You need a Functional Medicine MD or Integrative MD or a very knowledgeable Naturopath that has graduated from Baster University or something comparable.
      This is a serious matter so please get the appropriate care.

  • veronica King says:

    I was just found out that I’m heterozygous for the variants
    C677T and A1298C in the MTHFR gene. my doctor proscribed Viibryd for me and I’ve been on it for 3 months .75 of 10mg. I’m feeling better. I’m also taking vit D 3, magnesium and .50 bio identical progesterone by pill at night to help me sleep. I was fine until 8 months ago when my doctor proscribed Xanax for me, I didn’t know what it was I have never taken any drugs. I had a bad reaction to it and went down hill only used it for 3 weeks, after I had a panic attach from my inhaler. long story I lost my ability to sleep, headaches and dizziness and had a break down. I tried for months not use anything and got worse. That’s when everything I mentioned above came abroad. Any advice please would be great.

  • Tara says:

    I was recently diagnosed as compound heterozygous, one of each. I have conceived a child once but it was ovarian ectopic. Could this be a contributing factor? Is there a recommendation for compound heterozygous treatment? Thank you and I apologize if this has already been asked

  • Tammy Pittenger says:

    Hi Dr. Lynch,

    I have written you several times as I was hoping you would take me as a patient or perhaps, you could referer me to someone you highly recommend. I have tried everything holistically speaking under the sun to no avail. Seven months ago, I have our genetics done and mine are the most curious and perhaps a piece to my poor health mystery. My husband is tired of me spending money and not seeing real result, so I want to see you or someone with your expertise…. as it is my last hope. I am a mother to four girls, ages 12-4 and want to feel well, have energy and live a long life for them.

    Here is what I am currently dealing with… Can either you please help me or perhaps you can refer me to someone who can… I called several on your doctor referal page, but would love to receive a recommendation from you as I want to see the best as to save myself time and money. Thank you.

    -Had thyroid cancer- only have 1/2 of a thyroid.
    -Anxiety/Depression around ovulation and right before menstrual cycle.
    -Racy heart near ovulation (only when I am sleeping).
    -Inflammation when I am ovulation (very painful and it last for a week or so), not as bad since I started coffee enemas.
    -Only have half of my thyroid and am on thyroid medication.
    -A little bit of digestive issues.
    -Constantly tired, foggy and poor memory (like, ADHD).

    I do not tolerate salt, alcohol, kombucha, am sensitive to smells and medication (prescribed).

    Here is a snapshot of my highlighted genetics:
    MTHR: A12986 +/+
    CBS: A13637G +/+, C19150T +/+ and C699T +/+
    MAO A: R297R +/+
    COMPT: H62H +/-, V158M +/-
    SUOX: NO
    MTHR C677T: NO
    MTR: A2756G +/-

    I have been following you for a long time and have learned a lot from you and think you are best to help me or perhaps, someone you highly recommend.

    Thank you so much.

    Warmly, Tammy Pittenger

    • Dr. Aron says:

      Tammy – The please see the physician directory for providers who have completed some training with Dr. Lynch. Consider reaching out to Dr. Eric Balcavage or Dr. Bernarda Zenker or Dr. Jess Armine. All three have spoken at Dr. Lynch’s most recent conferences.

  • Lele says:

    I was just given my results (after much begging for testing to my PCM) for the mthfr test. I am hetero A1298C mutation. Single mutation. My PCM and the lab made it seem it was no big deal. I also have hypothyroidism and probably hashimotos and I was diagnosed two years ago with PCOS. They also tested for the lupus anti cuagulant and that came out high. Could the mthfr mutation be causing depression, fogginess, memory loss that I have been experiencing, along w miscarriages? Should I test my children to see if they inherited my mutation and if dad may possibly have a mutation as well? Also how can I help my body with this hetero single A1298C mutation? Thanks for the help. PS I am only 30 :/.

  • Maria says:

    I was diagnosed with cochlear hydrops(no vertigo) about 10 months ago. I also have fluctuating tinnitus and fullness in my right ear. After seeing multiple specialists no one has any answers and every doctor has a different opinion. About 3 months ago I went to a NP that did some blood work and told me I had the A1298C mutatution. She placed me on a diet after allergy testing and glutathione shots.I take a methyl B12 every day. I was taking a B multiple but my B6 was dangerously high and she took me off it. I am also on a strong diuretic. I wonder if CH can be connected to this mutation? Otherwise I am a healthy 35 year old.

  • connie says:

    Dr Ben,

    My younger sister has been tested by quest labs which shows she is heterozygous A1298C(not homozygous nor compounded Heterozygous 1298c + C677T) But her homocysteine is through the roof. She has Serious issues with anxiety, bloating, fatigue, a lot of the symptoms of Homozygous. My mother also tested positive for A1298C and she recently passed away due to Alzheimer’s complications before we began looking into or even knew about MTHFR, her doctor tested her, but didn’t seem concerned nor did he treat her for anything. He may have been right in doing so since your saying the Heterozygous is not really an issue. As for myself, I have always known I cannot tolerate B-12 and folic acid ( I now know folic acid doesn’t work for most) but never understood why until reading about Mthfr. An article on Wikipedia states the A1298C is not so common, but the A1298A is common. Should we seek elsewhere for reasons regarding the ill health that does appear to me to be in methylation but cannot be because of the A1298C mutation? I have not been tested myself but do find a correlation between the inability to consume B-12 and folic acid which both make me quite ill. I suspect I too will test positive for A1298C.

  • Toni says:

    I just found out my son is homozygous for the A1298C MTHFR mutation. He’s 12. He also has Ehlers-Danlos Syndrome-Hypermobility and Postural Orthostatic Tachycardia Syndrome complicated with non-epileptic seizures. Sometimes he loses his vision, his speech, or his hearing temporarily. Frequently he has memory lapses after his seizures. He has brain fog and headaches. At times he seems like a normal kid…at others he has trouble walking and his fatigue is overwhelming. Some of his doctors think the seizures are due to conversion disorder. After finding out about his MTHFR mutation, we’re getting a full DNA panel done. Do you have any suggestions for us? I’m happy to research anything…I just want him to have more good days than bad if possible. He seemed like a normal kid until this all started about a year and a half ago. Thank you.

  • Jamie says:

    Hello, Dr. Lynch. I just have a few questions regarding some statements you made in your article. Let me first start by giving you a little background info. I found out I have a single copy of the A1298c mutation after my 3rd miscarriage, all other tests done to figure out why I was having recurrent miscarriages came back normal. My doctor had me take baby aspirin, upped my folic acid intake, and put me on lovenox with my fourth pregnancy. This pregnancy was successful and I now have a beautiful 15 month old little boy. According to your article, having a single copy of the gene poses no real threats, but for me that was not the case. Should I be worried about any other issues surrounding this genetic mutation? Thank you in advance.

    • Dr Lynch says:

      Jamie –

      I wrote this article some time ago.

      A lack of MTHFR polymorphisms doesn’t make us in the clear. A single SNP or no SNP can still mean our folate levels are low.

      Do watch this video – as your son will need to avoid folic acid – and so should you – I explain why here:

      Folic acid is useful and helps many people – but it’s not without risk.

      We need to switch to the natural folates…

  • Rhonda says:

    Hello Dr. Lynch, I have been recently tested and found to be homozygous A1298C. This explains 30+ years of strange symptoms which have baffled most of my medical advisors. I have spent so much money on the next idea, diet, supplement, book, health clinic and medical professionals. I had a sense that Western medicine would never look for the root cause and chose to follow many advisors who tried nutrition, life style and supplement options with limited help from each. Upon learning through my 3rd of 5 children that she is mutated on both genes, I was tested and recently began Deplin, Glutathione powder (Metagenics product), and read that I should also be on methylated B-12 spray (Garden of Life organic spray). I have displayed many of the symptoms you list on the A1298C list and have for 30+ years. I have been on Thyroid medication for years, but T4 levels are low. Glucose is on the rise to trouble. No Homocysteine problems. But I am rising in my BP readings. Am I doing enough to consider this sufficient treatment or am I needing to go further in my testing and evaluation. My body packs on weight easily, my IBS is doing some better after the treatment began 6 months ago, sleeping better. CFS has been more under control yet, I don’t handle stress well at all. Still can’t handle any pollens of fall or spring without an infection requiring antibiotic. And of course, I would love to know which diet, what lifestyle choices, and what level of exercise is correct for ME! I have an appt with an Endocrinologist (Dr.Rodney Snow). Not sure if I am headed the right direction. Any thoughts? I sincerely Thank You.

  • Karuna says:

    I have non compounded, heterozygous MTHFR A1298C mutation, and I experience many of the symptoms you outline. I live a very healthy lifestyle, so I don’t think my lifestyle factors in. However, I do have trauma from my childhood. I’ve been reading more about the connection between trauma and chronic illness, and so I’m curious about your thoughts on all of this. As you say high stress could cause a heterozygous MTHFR A1298C mutation to be more of a problem, wouldn’t trauma factor in?

  • Shane says:

    Hello All,

    I have become overwhelmed with information and continue to confuse myself on how to treat everything. I don’t want to be locked into a practictioner that does testing and also pushes their supplements. I am trying to do most of this myself. Any input would be great!

    DNA Pathway planner (Mutations below)
    SHMT/C1420T +/- Hetero
    MTHFR/A1298C +/- Hetero
    MTRR/A66G +/- Hetero
    BHMT 1/2/4/8 +/- Hetero
    CBS/C699T and A360A +/- Hetero
    COMT/V158M +/+ A
    COMT/H62H +/+ T
    MAO A/R297R +/+ T

    Urine Amino Acids Test (Listing high/low only except ammonia which seems important)
    Methionine 5.5 (Range 9-56) low
    Lysine 36 (Range 45-700) low
    Taurine 1540 (Range 350-1850) high
    Ammonia 24000 (Range 12000-65000) Ok
    Glutamine 210 (Range 190-725) low
    Serine 170 (Range 140-568) low
    Beta-Alanine 37 (Range <35) high
    Anserine 290 (Range <110) high
    Carnosine 120 (Range 120 High
    Estradiol Low
    Homocysteine this lab 9, previous lab 13.
    B12 875 (Range >210)
    Folate 17.1 (Range >4.6)
    Cortisol ok (Presiously tanked out did supplementing in the past)

    Run 3-5 week
    Bulletproof coffee AM
    Eat fairly well
    High stress/Anxiousness once in a while.

    Listened to Dr. Ben Lynch a LOT and read the info from Dr. Amy Yasko that came with my pathway planner.

    Currently taking:
    MTHFRade (Electrolyte drink)
    Vitamin E
    B6 (P-5-P)

    Did B12 Methylcobalamin and 5-MTHF did seem like it helped. Also took Hydroxy as its supposed to be better for me because of my mutations. I felt REALLY anxious from it one day. So I stopped taking B12/Folate.

    Any input would be great! Thanks. Shane.


    I have been tested twice for the MTHFR mutation 12 years apart. The first time the result was homozygous cc & recently heterozygous c1268A> c.
    I have had numerous DVT’S. Which result is correct?

  • Robin says:

    My 5 yr old son has 2 copies of A1298C and has been prescribed Deplin 400mcg to help with impulse control. Once a day did not seem to help, so they added Tenex 1/2 of a 1mg tablet twice a day, but his impulses got worse. So the Dr. stopped the Tenex and doubled up the Folic Acid…. Does my son need to be on a certain form of Folic Acid? Or is this the correct treatment plan in your opinion?

  • Sissy says:

    Hi all. I am homozygous fir MTHFR A1298c, and have recent blood tests showing I am anemic and severely deficient in Vitamin D. Dr. Prescribed Ferrous Sulphate 325 mg, one per day, and over the counter Vitamin D3, 1,000 iu per day.
    I am concerned that these will not work for me and that I need methylated forms. Is there a methylated form for these. I’m not sure what I need. My doctor has no knowledge re the MTHFR mutation.
    Can you please help?

  • Jess says:

    Hello, I’m new to this forum, having just been diagnosed as homozygous (two mutant alleles detected) for the MTHFR A1298C mutation. Could someone please point me in the right direction? I am 29, trying to conceive and also being treated for hypothyroidism with high reverse T3 and TSH. I’m having difficulty with the genetic terms used, for example: “a single copy of A1298C MTHFR does not appear to be harmful”. I’m not really clear if this is the same thing as “homozygous”? Any wisdom will be greatly apppreciated!

  • Simon says:

    My wife only has a single gene mutation of rs1801131 T G the other one is ok rs1801133 G G. She suffers from PCOS, CFS, Panic Attacks, Agraphobia. She is already following a ketogenic style diet with great results but her energy is still low and still suffers from depression and acrophobia the ketogenic diet is doing wonders for her PCOS and her pain levels. I have see many years ago when we tried b12 injections it never gave her energy so i see an issue with methylation, i want to know is it best to start with low dosages of Methylfolate, what would you safe a good low doage is and should i be pairing it with any other supplement.

  • Sarah says:

    I am a 22 year old female. I recently had a full work up on my blood. I do not have any symptoms but the test did show intermediate risk of MTHFR (A1298C). My MTHFR (C677T) was fine. The doctor did not have much time to explain the implications of this. She did recommend that I take Metagenics- PhytoMulti (with iron). What does this mean for future pregnancies? Could it cause birth defects?

  • Michael says:

    hi Dr
    I am from Beijing China.I have a daughter.she is 2 years and five mouths old,she has speech delay.she has MTHFR 677 and 1298 mutations.Chinese medicine is not as developed as USA, it can not be diagnosed from the perspective of Mthfr in China.Our family really worry about that.Do you have any suggestion?thank you very much!

  • Ann says:

    Is the BH4 you’re referring to the same as BHMT-04? Thank you.

  • Liz says:

    I have been researching MTHFR for a while because of my own heterozygous mutation on the C677. In the process, I have urged my sister-in-law (who is 34) to get tested. She tested positive homozygous for the A1298C. To make matters more complicated, she is heterozygous for Factor V Lieden & had brain surgery 3 years ago for her Chiri Malformation. As I read further, it both makes more sense & also gets more complicated. Do all of these complicate the others? And how in the world can she find a doctor (we are in Las Vegas, NV) that has knowledge enough of all 3 to help her? Upon reading the positive result of the MTHFR, her own neurosurgeon recently told her that her high intake of folic acid was probably HELPING her headaches. ???!!!

  • Margaret says:

    Hello Ben.
    My son in law has MTHFR A1298 plus thyroid issues.With this in mind, would this be a contributing factor in his wife having miscarriages.
    Kind regards

  • Kim says:

    Hello, I am homozygous for the A1298c mutation and have low COMT activity (Val Met ++) and decreased serotonin transporter expression. I have tried the high methyl folate formulas but found they caused anxiety and insomnia. So I am currently only taking 800mcg of the methyl folate in a multi-vitamin formula. I am still however suffering with depression, memory loss, anxiety, migraine headaches, ADD and I have trouble with verbal communication. My husband is homozygous for the 677c mutation, but has normal COMT activity he is also taking the 800mcg formula, but still suffers from depression and nerve pain, his doctor believes it is neuropathy. My daughter is compound heterozygous and has normal COMT activity and is on the 800mcg formula, and doesn’t seem to be improving with anxiety, ADD and moodiness. We are also doing the protocol of fish oil, coq10 and probiotics. My mom was bipolar and committed suicide. And her mother also committed suicide. I am very concerned for my daughters well being and have scheduled counseling. But would like to do all I can in addressing the genetic aspects of her condition. My husband and daughter seemed to tolerate the higher methyl folate formulas, would it be ok if they took 15mg until it built up in their system? My daughter and I are on a gluten free diet.

    • Mary says:

      Hi Kim, god bless you and your family. My suggestion would be to cut back on sugar and dairy also. Take a SSRI and exercise.

  • Sabina Lloyd says:

    Hi there. I am heterozygous A1298C, and upon testing found that my homocysteine levels were in fact on the higher side of normal (11), I had high levels of iron, T4 & T3, suppressed TSH even though I had hashimotos thyroid. After getting rid of wheat, processed carbs & supplementing with Optimal Prenatal (I was trying to get pregnant) all of my bloods have reached the so called “normal” range. Im curious as to what might cause high homocysteine if it is rare in people with my mthfr mutation?
    My husband, on the other hand, had normal bloods and he is homozygous C667T. With this said I have had thyroid complications since late puberty, and have had half of my thyroid removed due to enlarged goitre at 26 yrs old.
    We did get pregnant by the way, with some help. Now Im wondering how to care for our bub who is 6 wks. And is bound to have atleast one mutation. Any advice around how to care for our child, and why I had a high homocysteine level. Now it is 4. Thank you

  • Andrea Flores says:

    Hi. I´ve been detected as Heterocygous A1298C. I´ve been already through two heart strokes. The first one 3 and a half years ago and the second one last week. I´m very scared since doctors tell me I could very much likely develop another stroke event and that there is not much to do except taking my anticoagulative pills (xarelto, effient, aspirin protect) and Benexol for vitamin B and folic acid.

    On march 2016 I got an ectopic pregnancy and the treatment to stop the pregnancy was metothrexate. Was this treatment the trigger of a new stoke event? I was just taking plavix and aspirin at that time.

    I’ve also been diagnosed of posible development of glaucoma. Have a LOT of rhinitic allergies, one natural abortion on 8th week (November 2015) and two micro sugeries to get rid of a L5 herniated disc. I want to know if these other factors could be inter related with deficiencies in methylation.

    • Dr Lynch says:

      Hi Andrea –

      Sorry to hear this.

      MTHFR A1298C is not that significant of a MTHFR polymorphism – HOWEVER you may have other genetic polymorphisms and likely do – which are contributing to your symptoms.

      I recommend looking at your genetics via 23andMe and then running your raw data through a tool called StrateGene.

      You also need to work with an integrative health professional and/or naturopathic physician.

      Factor V Leiden – have your docs looked at this potential genetic defect for you? They need to.

      • Andrea Flores says:

        Thanks very much for your reply Dr Lynch.

        In fact doctors have looked for Factor V Leiden and found nothing there.

        I’ve been thinking if my asthma and allergies has nothing to do with this stroke history I´ve had. These poor body oxygenation impacts in poor blood oxygenation and it might be related to the MTHFR mutation and as so to speak deficiencies in methylation?

        It´s a bit difficult for me to make the 23andMe study here in Mexico as they still don´t offer that service here. The availability of the service in a country depends on considerations such as transportation ease and local laws about genetic testing (as I´ve been told by them). Do you have another suggestion for studies?
        Thanks for the advice!

  • Sanja says:

    Dear Dr Lynch,
    My 74 yr old mother has heterozygous C677T:CT and homozygous A1298C :AA. She has suffered from migraines most of her life, cured by an SSRI 10 yrs ago. 3 yrs ago she started showing signs of Parkinson’s: lethargy, tremor, slowed movement, falling over, depression, masking. I gave her l-phenylalanine for 6 months (which reduced her symptoms dramatically) and then she had a pulmonary embolism, the source of which still has not been found. Now the cardiologist is having difficulty regulating her blood coagulation and she is on Warfarin. She has stopped taking l-phenylaline and the Parkinson’s symptoms have not only re-appeared but are getting worse. She is now having trouble swallowing. 1. Is it possible that L-phenylalanine caused the embolism? 2. How can she best regulate her blood clotting, considering the mutation? 3. She’s been told to avoid leafy greens while she takes Warfarin, but is that a bad idea if she has this MTHFR mutation? 4. I know vitamin B9 has to be taken in the natural form, but what about vitamin B6? Is it ok to take B6 in a synthetic form for someone with a MTHFR mutation? 3. And what’s the best approach to deal with her Parkinson’s? Would seeing a regular neurologist be the right way to go forward? If they try to give her Levodopa, will she deteriorate even more? Who can we ask for a consult? Thank you so much for everything you have posted. I’ve learned so much from your website and will be incredibly grateful for your advice

  • Stephanie Maldonado says:

    Dr Lynch,

    I’ve mostly just focused on learning the basics of methylation and keeping my head over there water, but now I’m beginning to look deeper into some genes. I was helping a friend run her 23andme through geneticgenie and while reading their description of A1298C it started nagging at me. They state that aluminum and mercury can act as a drain on BH4. Could this indicate a pssible link between MTHFR A1298C and adverse reactions to vaccines?

  • Barbara Porto says:

    I was advised to get the mutation test by my sister’s doctor while we were talking about my suspected sensitivity to folate as relates to developing colon polyps and cancer. I now have the results, negative for C677T and a single copy of A1298C mutation is found. I don’t know what my homocystine level is – should I worry? I have been having polyps removed for many years now and they seem to become more numberous and the doctor is starting to not want to do colonoscopy anymore as I am 79 YO – very health, take no meds.

    • Dr Lynch says:

      Hi Barbara –

      I single A1298C MTHFR polymorphism is not that significant. Polyps may be related to folate, however. So make sure you are consuming adequate leafy green vegetables, fiber and eating overall a healthy diet.

  • April says:

    I am heterozygous a1298c, and my experience seems right up there with the compound heterozygous people. I’ve had 8 miscarriages, on my 6th one I was finally pregnant long enough to have dr appointments and blood work, ect. I was right at my second trimester when I lost it and discovered my gene mutation. All of my other pregnancies I literally started losing the baby the day my test said positive, or the day after. And I couldn’t ever make it to the dr in time to have any data on how my body handled the pregnancy. My health has always been poor, even when I’ve dieted and exercised I would stay on the weaker end of “good health”. My menstration every month would be nothing but clots and so painful it would make me sweat and vomit. When I was a teen and tried birth control to help it, it made it worse. But the dr kept me on it for a year thinking it would eventually help out. I know now that it did just make it worse.
    When I lost my 6th pregnancy, and found out what my delima was, as depressed as I was I did finally feel some peace at being able to put a face on my nightmares.
    I lost my job and insurance being bedridden before I lost the baby, so all of my research, care, and medicating has been Internet and forums based. The few Drs I have spoken to around here seem to think the wildest ideas about the mutation, like giving me 2,000 mg of folic acid will suddenly make my body start to metabolize is for some reason, and that hormonal imbalances aren’t associated with the disease and birth Control will help me! Although I wasn’t put on birth control after the miscarriage because I can’t take it with the disorder. Every dr I’ve spoken to has their own opinions on the matter, and after my extreme research on it, none of their opinions correlate with mine. I refuse, after all I’ve been thru with this, to go against what common sense tells me.
    I strongly believe the lack of research on a1298c heterozygous, needs to be noticed and someone pick up the ball. Because I’ve got the way worse end of this. Mine is not barely there or unnoticed, at all. I struggled without every day before I even realized I had it.

  • Cathy says:

    Reading about the woman with miscarriages this morning made me think. My daughter is homoxygous A1298C. She had a very hard time getting pregnant. She also had a childhood of depression and anxiety (saw a psychiatrist and was put on anti-anxiety and anti-depressants at age 8). When she finally got pregnant her gp tested her for MTHFR because of her childhood depression. The gp was right. She’s been on Neevo for three years and got pregnant immediately after she weaned her two year old. I’m feeling the l-methylfolate supplement might have helped with everything from depression to getting pregnant. I have also suffered from depression/anxiety since I was a teenager. I must have one mutation or daughter wouldn’t have been double negative. I have not had myself tested but might to see if it is hetero or homo . . . In any case I also have a cancer of the Kreb’s Cycle (SDHB complex II gene mutation). There is no cure for my cancer but I’ve managed functionality with surgery and supplements. I’m trying to get the lead researchers on my Pediatric Gist Cancer to look into a possible two mutation concept of possible MTHFR and SDHB mutations together leading to tumor growth . . . More digestive cycles not operating correctly. I think a functional key behind my cancer is the NAD+ NADH equation which is awfully close to the MTHFR dysfunction.

  • Kris says:

    I’m concerned about what to do for my son. He has only one copy of the 1298 and is on the autism spectrum. He does not fall asleep without melatonin. If you are saying one copy is not a problem what should I do?

  • bridget says:

    My 26 year old son was diagnosed with bipolar II 5 years ago he suffers severe anxiety, depression and insomnia and is on Saphris 5mg Wellbutrin 450 mg and Lexapro 30 mg with 800mg of gabapentin up to six times a day….he takes about 2400 mg usually a day and he still feels depressed anxious and extremely tired. I have tried everything…he has been hospitalized twice in 5 years. I finally sent out for the 23and me test and his MTHFR came back as only heterozygous A1298C. His Psychiatrist put him on 15 mg of Deplin and he crashed so he lowered it to 7.5. Is there a better option? This was the first time his doctor ever prescribed Deplin.

    • Dr Lynch says:

      Yes. The better option is to work with a health professional who will actually look at neurotransmitter metabolites, organic acids, amino acids, lifestyle, diet, environment – vs using medications and guessing which ones will help or not.

      I highly recommend you order StrateGene and join our Facebook group. There you will be able to share this same story and reach out to some health professionals who you can make an appointment with via online consults.

      The community also is knowledgeable and they share what works for them and what doesn’t.

      Learn more about StrateGene here – You will run your son’s 23andMe raw data through it. That is step 1. Then step 2 is to watch the videos I provide. Step 3 is to request access to the Facebook group.

      I’m confident you can get your son better – just need the right tools and professionals.

  • Lindsey says:

    Is there a reference you’d recommend for dietary etc recommendations for people with homozygous A1298c?

  • Elena says:

    Hi, I came across MTHFR mutation when I tried to find a reason for my 7 years old son’s high toxicity on hair sample for cadmium and aluminium. He has vitiligo and nut/seasonal allergies. He has problems falling asleep and very emotional, reactive and weepy at times. After onset of vitiligo at around 4, I stated supplementing him with zinc, magnesium, Vit E and occasional selenium. He is selenium and zinc deficient on his hair test. Also did homeopatic support for liver and detox. His vitiligo stabilized and some spots got repigmented. But a few are still present. (we went from 40% of his body to about 10% of white spots). His cadmium reduced from about 3.0 to 1.5.
    I understand with his mutations we need to use methylated forms of folate and B12, but I think his sulphur pathways are also affected? Please advice on his supplemental support with his mutations if possible.
    We did 23and me test and below are his gene mutations.

    VDR Bsm rs1544410 TT +/+
    MTHFR 03 P39P rs2066470 AA +/+
    MTHFR A1298C rs1801131 GG +/+
    MTRR A66G rs1801394 AG +/-
    AHCY-01 rs819147 CT +/-
    AHCY-19 rs819171 CT +/-
    CBS C699T rs234706 AG +/-
    CBS A360A rs1801181 AG +/-
    CYP1A2 164A>C rs762551 AC +/-
    CYP1B1 L432V rs1056836 GG +/+
    CYP1B1 N453S rs1800440 CT +/-
    CYP1B1 R48G rs10012 CG +/-
    CYP2D6 S486T rs1135840 CG +/-
    CYP2D6 2850C>T rs16947 AG +/-
    GSTP1 I105V rs1695 AG +/-
    SOD2 A16V rs4880 AG +/-
    NAT2 I114T rs1801280 CT +/-
    NAT2 K268R rs1208 AG +/-

    • Elizabeth says:

      I was a regular crier as a child and for many years thereafter. At midlife I was tested for food allergies and found out I have dairy allergy. Stopped having dairy, no more tears. Accidentally got some milk protein (casein) and the next day cried all day–and had serious brain fog, neck and head pain, etc. So, that’s one thing to look at. Casein is lurking in supplements, also a staple of a number of frozen foods (including restaurant french fries), and on and on. It lurks!

      I appreciate your information re. vitiligo. Good luck to you and your son.

      • Elena says:

        Elizabeth, thanks for your input. We’ve checked him for gluten, I suspect it maybe the one of the culprits. Will check for milk as well.

  • Doreen says:

    We just found out that three of our adopted children have two copies of the same mutation A1298C. Two of which are diagnosed with thyroid hormone resistance. OCD, ADHD, SPD and FAS are also in the picture. They are also extremely energetic and have trouble calming down, impulsive, constipation, and sleep issues. We implemented GF diet for the most OCD with the SPD super hyper son and it helped him to maintain focus and not so hyper for approx 3 months then it stopped working. They are on cod liver oil, magnesium (natural calm), and calcium ascorbate. We have 7 raised garden beds and do what we can to limit processed foods. We even buy from a local honey farmer. We live in AZ and are thinking that their sibling, who we also adopted most likely has the gene mutation also. My husband is a teacher and I stay home to take care of the children’s special needs. On one teacher’s income, what do you suggest? Where do we go from here?

  • robin says:

    MTHFR A1298C and restless leg syndrome? I have both and would like to know if treating the MTHFR variant will help with my restless leg.

  • AFlynn says:

    “Those with A1298C MTHFR mutations do not display elevated homocysteine unless they are combined with C677T. Even when combined with C677T MTHFR mutations, the A1298C types still do not tend to have very elevated homocysteine.” My son has raised homocysteine levels and has been diagnosed with A1298C. I wanted to let you know this is possible. His biological father only has the C677T with raised homocysteine levels and I have not been tested. I know from research that this A1298C must have come from me. Is this right? My mothers family have a history of stroke and heart attacks. Now I am thinking my side should be tested. Thank you for the site.

  • Kim says:

    My daughter and I both have mthfr c677t genotype c/t; a1298c genotype: A/A mthfr genotype ( one copy of c677t) Can you explain what both of these together mean and what we should be doing? So confused

  • Poh CHAN says:

    HI I am a GP in Melbourne in 23 yrs practice, who have been encouraging selected pts to look outside the square to consult with integrative care practitioners but have not had time to pursue more research into MTHFR implications till I started scrutinizing my own health and the undiagnosed. I am a A1298C heterozygote but neg for C677T. U have mentioned several times U do not think it is clinical significant compared to the compound mutations or homozygotes. I had speech delay till age 4 and have had bruxism since childhood. I was Dx with normotensive glaucoma last yr after 6 yrs surveillance. I have a strong FHx glaucoma in my mother’s family (7 members) with my half-French/half-Chinese cousin being Dx at age 19. My neuro-ophthalmologist postulates I have a form of familial cerebral neuropathy. I have had bilat facial and limb reduced sensation for >5 yrs, altered tight sensation in my toes unrelated to my disc prolapses, Recent autonomic testing confirmed severe postganglionic sudomotor neuropathy. Realized only this past mth that I have not been sweating for >5 yrs. I am scheduled for quantitative sensory testing for small fibres in 3 mths. I think my diagnosis of small fibre neuropathy is correct. At least, my tilt table test and autonomic cardiovascular responses were fine. My bruxism fractured my upper molar 2 mths ago and I need an implant. I do not have obstructive sleep apnoea on 2 inpatient sleep studies. Dopamine deficiency may be a contributor. My paternal cousin was diagnosed with coeliac disease last yr whilst my younger sis had thyrotoxicosis and gestational diabetes. I am atophic with sesame and sunflower seed allergies – dermatitic, not anaphylactic. Previous testing for fasting homocysteine, coeliac serology, total and active B12, thyroid/liver/microsomal Ab, ANA, ENA, antiDS DNA were normal. I have a strong FHx malignancy on both sides of my parents’ families. Aged 47, I am the eldest of 4. I intend a gluten challenge for 4 wks, then seek rpt gastroscopy with 4 quad biopsies of my small bowels, RAST testing to staples, RBC folate and RBC Zn, rpt total and active B12, HLA coeliac genotyping. Other than Caroline Ledowsky in Sydney, can U recommend any competent MTHFR knowledgeable practitioners in Melbourne? There is the National Institute of Integrative Medicine in Hawthorn but I am not so sure about them. Australia is way behind compared to the States or UK .. even in terms of the testing mentioned by the other bloggers, I am clueless. Just as the Medical field in Aust is in denial about Lyme or Lyme-like disease in Aust, there is much controversy about MTHFR testing in Australia as there is little education available. I am prepared to change my diet, go gluten free, take supps etc to arrest my disease but need to establish baseline tests/controls first. Do U lecture/educate professionals and if so, how and where? Was Caroline L one of your students? How do U consult online? I look forward to hearing by you by direct email if possible

  • Laurel W. says:

    Hi there! I am heterozygous A1298C, yet I do have many complications that are often associated with MTHFR. (Miscarriage, severely tongue tied babies, hypothyroidism, gluten sensitivity, etc.) I wonder if you might elaborate on your statement saying that this particular form does not usually carry much concern? You mentioned that perhaps there other methylation issues going on. Any suggestions on what I should read up on next?

    I will say following a protocol for MTHFR has had a profound impact on my health and well-being, so we’re definitely on the right track.

    • Dr Lynch says:

      Hi Laurel –

      There may be other folate SNPs or methylation dysfunction causes. I thought that MTHFR was the magic bullet for a long time – it’s a key issue for sure; however, there are other key SNPs as well.

      I’ve created a genetic report which people can see many other key SNPs which may impact their folate and methylation – along with some other functions like neurotransmission.

      It is called StrateGene. You may learn more about it here –

      I recommend you consider this as it may identify some key SNPs and pathways for you and your health professionals.

    • Ann J says:

      I was just reading your message and thought that you could also have malabsorption of Vitamins that could be also affecting all of the other gene sap’s. I am heterozygous A1298C, but I also have many other polymorphisms that are being affected by the systemic candida overgrowth in my tissues. I also have poor methylation that affected my immune system. There’s a test for Methylation done by Doctor’s Data that can check to see how well you are methylizing. You also may be missing the Glutathione gene from one of your parents like I am.
      It would be beneficial for you to gone onto “The Institute for Functional Medicine” website and look for a doctor that is well versed in methylation, 23andme testing, and the other gene issues.
      Sounds like you also have autoimmune issues. Tom O’Bryan, has helped many people with gluten sensitivities. The gluten may have damaged your gut lining so that you don’t absorb nutrients and also caused autoimmune issues.
      Hope this information is a great help or start for you. Its been a very long journey for me…and I know that methylation and gluten sensitivities were the issues for me, my thyroid and poor methylation.

  • Matthew Lewis says:

    My blood work shows one mutation of 677 and one of the 1298. What is the treatment/natural supplement protocol for the 1298? I read your article on 677.

    • Dr Lynch says:

      It is the same for 1298 as it is for 677. One needs to find what works for them in terms of which supplements to use. The first thing to do is all the lifestyle, diet and environmental recommendations. Removal before adding in nutrients. This way you know more of what you need.

  • Sharon Mayer-Conroy says:

    Hi, Dr. Ben,
    Thank you for all your work and this informative site.
    I was tested through my psychiatrist (who treats me for depression) and the test only tested for C677T, with the report saying that I am “homozygous for the C allele of the C677T polymorphism in the MTHFR gene,” and states that this genotype is associated with normal folic acid metabolism, etc. In addition to depression, I have significant issues with migraines and low energy (both life long).
    My daughter, who was recently tested, is compound heterozygous for C677T and
    A1298C. (We are working on getting up to speed on all this and making sure she has the proper supplements.) From what I understand from your article, a mutation of the A1298C gene shouldn’t be a problem (as long as one keeps a healthy lifestyle) if their C677T is normal.
    Is my understanding correct, or should I get tested? Thank you!

  • Mohd Sufian says:


    My name is Sufian. I’m from Malaysia. I find your website is extremely informative and useful for MTHFR information. 6 months ago I tested for MTHFR mutation. Here is the result:

    677C>T : Normal
    1298A>C: Homozygous mutant

    What does this result means? Do I have MTHFR C677T Mutation even though it stated there normal?

    Fyi, I’m a sufferer of OCD since 2005 but it was kept under control when I took Lexapro an SSRI. Problem started in late 2012 when the medicine stopped working and that’s where the problem began. I took countless antidepressants SSRI, SNRI, TCA, anti psychotics, mood stabilizers and even undertook ECT 12 sessions with minimal or no benefits at all. Then I have to grappled with all the side effects these treatments had caused me and I don’t know how long I can stand this. I tried exercising, taking multivitamins and proper diet, but no significant effects were felt. I have 4 siblings, i’m the second. My 3rd brother suffers from ADD and Dyspraxia. While my youngest sibling which is the 4th one has Down Syndrome. So I’m beginning to suspect some genetic defects/mutations or whatever in my family.

    I really appreciate your advice here as doctors in Malaysia are not familiar with this MTHFR issue. Even the testing was done in Singapore as labs here are clueless when it comes to this. I’m really desperate now. Please help.

    Thank you.

  • andrea says:

    can i assume from the information here that being heterozygous for a1298c and normal c677t does not pose any problems? You say it has to be homozygous or compound in order to be a problem?

    I have lyme, metal toxicity and debilitating ongoing depression and anxiety for years.
    Can the heteryzygous condition cause any problems with mental health or recovering form the lyme/metal toxicity?


    • RoseAnnGilmer says:

      I am trying to leave a moment about A1298C only a single copy on my daughter, but she has also got and schizophrenia and pyrroluria, which are all B vitamin issues, and has all your concerns except the Lyme. are you taking B3’s mega doses for the depression? All psych issues are B vitamin deficiencies, there is so much info out there, let me know if I can help

      Still looking to get a response from the doctor!


  • selena says:

    I have the double whammy , and I have all of the symptoms of MS but no brain lesions, I desperately need to figure this out

  • We are new to all of this..everything I am reading says the heterozygous A1298C mutation doesn’t cause a great deal of problems. Where can I find updated info on this? Our family members who have this specific gene mutation would beg to differ. Also, my dr says you’re just a carrier. It does not affect you. Is this true?

  • Clayton L Meyers says:

    I recently was tested and am homozygous A1298C or 2 abnormal copies on the A1298C gene. This is related to my elevated homocysteine level at 15.0 (should be under7 for your reference). My doctor said to take 5-MTHF (methylfolate) 1 mg daily. I have three adult children so it seems they should be tested too. Is there more information available for me?

  • Clayton L Meyers says:

    My mercury and lead levels were elevated also so I’m taking take Innate Detox 1 cap 3 times daily for the next 2 months along with the 5-MTHF (methylfolate) 1 mg daily for homozygous A1298C

  • Tri says:

    Recent DX with homozygous 1298, was checked after treated with antibiotics that left me with anxiety attacks. I have been taking some supplements and feeling better. I do not take BH4 should I try a low dose of this ?

    • Dr Lynch says:

      Instead of taking BH4, which is very expensive and does not work if you have high levels of free radicals (oxidative stress), I’d consider PQQ. PQQ is a fantastic antioxidant which is many times more effective than vitamin C. Reducing the oxidative stress supports biopterin way more than supplementing with BH4 would provide.

    • Ashley says:

      OHMYgosh! I had an anxiety reaction to sulfa antibiotics and the pharmacist and doctor said “that’s not a usual side effect of this drug.” I’m homozygous a1298c GG phenotype. GO FIGURE!

  • Heidi Henkes says:


    I have 2 copies of A1298C Mutation. My husband and I are currently trying to get pregnant. I have ordered Dr. Lynch’s Optimal Prenatal from seeking health. I am 38 so on top of MTHFR I am old to be trying to conceive. I also am taking the Optimal Fish Oils from seeking health. Just curious if that would be sufficient for everything I need pre and (hopefully!) during my pregnancy.

    I have spoken to multiple doctors about this and although they don’t necessarily deny that MTHFR is something I need to be concerned about they are definitely not knowledgeable about it and have very few solutions/little advice for me. I’m basically told to figure it out on my own. With that said, I have done all my own research, which is fine, but I’m not a doctor and I would like a doctor to be able to tell me I’m on the right track.

    I also have a perhaps silly question-I understand the point of taking the appropriate vitamins so that I have a healthy baby but will this possibly also help so that I don’t pass on MTHFR to my children? Or is that just inevitable? I just would like to know if there is anyway to limit the possibility of transfer. Any and all help/advice would be greatly appreciated.

    Heidi Henkes

  • M says:

    I have a compound heterozygous mutation, and I’m wondering if extreme pain that comes and goes, could be a symptom. My doc feels I need to see a psychiatrist as there could be some somotization. Could be, because I’m in pretty bad shape. My homocysteine levels were at 20 last time they were checked.

    • Dr Lynch says:

      Pain and high homocysteine go hand in hand. Sorry you are experiencing this. Pain will actually be amplified in people who have additional genetic SNPs such as COMT as that increases dopamine and thus pain. Homocysteine slows the COMT gene down even more.

      Please do read this MTHFR Protocol article and consider making some alterations in your day – these have helped a lot of people.

  • Candace says:

    Yes i just tested and have both of a198c but i do not have the c677. Im worried I might have cbs due to sulfa allergies and other things. I am taking cerafolin 600 mg. I was taking cerafolin nac but dropped the nac due to sulfa and ever since I’ve had folliculits on my head. I’ve only been on the reg cerafolin for one day. Im afraid that the medication is causing me to have sores in my head. Im hoping dropping the nac will clear it up. If it doesn’t im worried bc i can’t function without this medicine. I’ve even tried to stop the prescription and take Thorne with all the same vit methylated folic acid, b2, b12 only left out b6 just in case cbs. It did nothing for me. Felt awful with in one week. Can u please help me?

  • Dawn Shipley says:

    I am homozygous 1298cc. I have extreme pains throughout my body, general anxiety disorder, depression, IBS, functional abdominal pain syndrome, high blood pressure, adrenal fatigue, hypothyroidism, hormonal imbalances and more. The struggle is real, and I am happy to find your site!! I also believe my parents both had it, as my mom had bipolar disorder, multiple miscarriages and both my parents died from liver dysfunction, at 37 and 53. It’s sad this info wasn’t around for them!!

  • Phoenix says:

    Dr. Ben,
    Thank you again for do I got what you are doing!
    We have no MTHFR peeps locally so I’m planning on doing some remote consulting soon. In the meantime, my daughter has homozygous 1298 ( haven’t done 23and me for her yet) and SPECTRACELL B12, D3, K deficiencie, all other Bs on sp ectracel fine. Borderline E, zinc, and manganese. She is a mess with a lot of skin problems. Trying to get these deficiencies cleared up while waiting on the consult.

    And btw- she has a clean diet almost paleo, and is a big meat eater!

    Her CBC is fine, MMA was w I think bounds, intrinsic factor almost topped into positive range, and serum b12 low, plasma folate normal, not low, but she has very high whole blood histamine.

    Do you have any insight about how to help figure out why she is not processing B12 better, and then aside from replishing the b12 and other deficiencies what might help?– aside from other autoimmune processes working. She also has malabsorption ( undiagnosed celiac but it runs in the family) as well.

    • Ann says:

      Perhaps your daughter has gut dysbiosis….a stool test would reveal this. B vitamins are produced in a healthy gut micro biome and if you don’t have this you won’t make enough HCL acid in the stomach to break down proteins either. Something to consider. I am not a practitioner but someone who has learned this knowledge by experiencing it herself.
      Also, consider if your daughter has a candida or fungal overgrowth in the intestines or SIBO/SIFO. Perhaps, the Gall bladder isn’t functioning as well as bile helps with the absorption of fats. A functional medicine doctor can help with this! I may be way off base, just trying to help. You can also go to for help…they can find celiac in very difficult cases..Dr. Tom O’Bryan is an excellent physician. Normal Celiac tests done through western medicine don’t check for all of the gluten proteins…Dr. O’bryans office does.

      • Ann says:

        Also will help you determine if your daughter has the APOE gene…if this the case eating saturated fats wouldn’t be good for her.
        More than likely your daughter has SIBO, hence the nutritional deficiencies with the fats. She may have a leaky gut hence the autoimmune disease…leaky gut is present in almost all autoimmune disease. Stay away from wheat, dairy, processed sugar…you need to heal her gut.

        • Phoenix says:

          So kind of you to offer these details Ann! Thank you so much! I think the low stomach acid is a big possibility for many reasons. And even with the great diet she may still have disbiosis, and candida. She is so sensitive we have to do one thing at a time — after a month of replenishment of b12 if it looks better we are going to add a few things one by one and betaine HCL is one. Thank you so much for all of your thoughtful suggestions!!!

        • Ann says:

          Also, you might look into digestive enzymes. My functional medicine doctor suggested Houston digestive enzymes. You can call and talk to them about your situation. Because she may not have the right gut bacteria due to dysbiosis, she may not be able to digest food well. The enzymes will help.
          If you’re eating non organic foods, glyphosates (round up weed killer) is showing up in the food chain and this will mess will our healthy gut micro biome (gut bacteria).
          You should have your daughter seen by a regular gastroenterologist to check for SIBO (small intestinal bacterial overgrowth) or SIFO (small intestinal fungal overgrowth). A breath hydrogen test will check for SIBO and taking antifungals will kill a fungal overgrowth. If digestion has been poor for a long time her food might be fermenting in the gut. An Integrative medicine Gastroenterologist can help with this…I know of one in Los Angeles, CA (Farshid Sam Rahbar, MD) and also at Johns Hopkins Baltimore, MD. (Gerard Mullin, MD) If it is determined she has a fungal overgrowth you can consult with Clinical Nutritionist, Michael Biamonte, over the phone in New York.
          Eating genetically modified foods is a no no…eat organic non gmo foods which are nutrient dense. Her digestion might be really bad…so making some nice bone broths are healing and soothing to the gut. You can also look up Sarah Ballantyne books, on autoimmune. She also has cook books. The G.A.P.S. diet book is another book you should get.
          Let me know if you have any other questions. I have suffered quite a bit in my life and have learned all of this information by spending thousands of dollars seeing doctor after doctor.

      • Helpful ideas! Thank you

  • Sari says:

    My partner and I have been tested for the MTHFR mutation as we are going to start IVF in a few weeks time. I got tested last year as I was and still am suffering from anxiety and depression. My main symptoms are chronic fatigue and even after trying Metagenics adrenotone it hasn’t gotten any better. I am currently taking DHEA to support my adrenals as prescribed by my IVF specialist.
    I was tested heterozygous for C677T and A1298C and my partner was tested heterozygous for A1298C. We are not really sure what this means in regards to our embryos. We can get them gene tested for mutations but it does cost a lot of extra money. I am struggling to understand the whole MTHFR and which consequences it has. Are you able to give us any ideas / opinions / advise if it is necessary to get the embryos tested and if we just take a chance and if I fall pregnant then get tested? I am taking Thorne Prenatal, mainly because it has the activated form of folate. I am at a loss… so any help is appreciated 🙂

  • Phoenix says:

    Im homozygous:
    A1298C (+/+ GG)
    COMT V158M (+/+ TT)
    COMT H62H (+/+ TT)
    MAOA T941G (-/-TT) WILD TYPE
    MAOB rs1799826 (+/+ CC)

    Heterozygous :
    SLC19a1G80A (+/-CT)( thank you Strategene!)
    MTHFD1G1958A (+/- AA)
    MTRR A66G (+/- AG)
    MTRR C524T(+/- CT)
    CBS C699T (+/- AG)
    SOD2 A16V (+/- AG)

    I know you generally think we can over and under methylated at any given time, however, i am going with the practitioner who gives a compelling case that we are born with a methylation status so to speak, although we can over do the correction and over or undermethylate from too much of a good correction so to speak.

    The reason for my note is to ask you Dr. Ben, if you would please comment on my SLC19a1G80A (+/- CT) snp– it is a little scary to me since the STRATEGENE is showing that this heterozygous snp has potential to cause a 50% reduction in my cellular transport of folates and antifolates. It also says it increases risk of leukemias…i have some issues with my blood ( have had several different anemias throughout my life, including hemolytic) and many autoimmune disease manifestations, so none of this is a surprise. I am low in Vitamin K, D3 and B12 although i have been supplementing the B12, low dose D3 and low dose K for a long time.

    Anyhow i am using a low dose of SAMe now after correcting the above deficiencies and hoping this might straighten out the storms that do actually seem to have had a hand in a lot of autoimmune difficulties i have had in my life, but a clean lifestyle and modified paleo diet have ameliorated.

    Thank you for the amazing and spectacular STRATEGENE (not for the faint of heart!) and thank you for any insight into the competition going on in my methylation cycle showing my whole blood histamine to be high, and yet a snp which seems to very much be affecting my blood and health (SLC19A1 G80A (+/- CT).

    • Dr Lynch says:

      Hi Phoenix –

      You must be one smart cookie with amazing attention and focus – when you are doing well! Your ability to maintain higher levels of neurotransmitters is exceptional!

      That said – you are also more prone to stress and anxiety and irritability. Do you find this?

      Get a handle on it?

      A great way to tell if your folates are serving you well is to order a FIGLU test and MCH and MCV. A RBC folate test is not very useful. One many also consider lymphocyte testing via Spectracell.

      While the SCL19A1 snp is significant – it may or may not be an issue for you. Testing will demonstrate that. You can also use liposomal methylfolate to bypass that issue – or at least minimize it.

      Please read this article on vitamin D and infections.

      Glad you’re enjoying StrateGene – it is awesome – and a bear to learn but once you do – it’s a total game changer! And FUN!

      • Phoenix says:

        Thank you so kindly for your comforting words Dr. Ben! What hopeful news that issues related to SLC19A1 G80A (+/- CT can be bypassed! Indeed, i learned a long time ago to manage my own stress and this has been the equivalent of learning how to use the wind to sail smoothly in all weather! Thank you again!!!

      • Ashley says:

        An add-on to my note below – my MCH and MCV are always high! Does that mean i need to supplement with methylfolate? Gah. I’ve asked about that too and doctors just say “don’t worry about that.”

  • Carol says:

    I just got my MTHFR test back today, and I am A1298C positive, genotype C/A. (I think that means I’m heterozygous A1298C, right?) It seems that according to this article, I should be pretty okay. The last sentence of the article says one copy of the gene isn’t harmful. Except I’m not ok, which is why I got tested in the first place. So what is the protocol for someone like me? How much do I need to reduce body burden?

    I have a nutritional therapist helping me out, but as he says, I have to learn my body. If I’m heterozygous A1298C, then in what ways is my body or methylation cycle impaired?

    I also tested positive for COMT v158m A/A met/met, but there is no information about that on this site. However, everything I’ve read said that COMT also impacts methylation and enzyme activity. ERG! I’m confused!

    • Dr Lynch says:

      Hi Carol – There is a lot to it then just MTHFR and COMT. I’ve learned a ton over the years. I highly recommend you run and get more information there. Then join our StrateGene Facebook Group. There you will get access to lots of videos and information via the report and group.

  • Phoenix says:

    Useful information regarding which snps may or may not prevail:

  • Judy Fanelli says:

    Hi Dr Lynch
    After many doctors, psychiatrists and therapists I feel we are closing in! My son is 24 and has always suffered from anxiety… Diagnosed then with ADHD, anxiety, crippling OCD and ASD. He has been on many anxiety and antidepressants with very limited success. He was on Ritalin for 14 years – we decided to do supplement therapy and have dropped all meds 2 years ago. Although he has improved greatly the anxiety, OCD and ADHD symptoms are ever present. He gets fixated and rants. we have had 23 & me testing and have found he has homozygous A1298C. Doctors Data methylation profiling has also shown high methionine as well as high homocysteine but then low SAM and low cystathionine. He is on supplements at present but I know we are missing something!!!! Tried SAMe supplements as well as D-Serine… increased magnesium and p5p and innositol. He can’t tolerate B6 – makes his anxiety sky rocket… What are we missing?

  • TARA says:


  • Andrea Gaines says:

    I am so thankful to have found your website. My 9 year old daughter had live blood microscopy done because honestly I thought she had parasites. No parasites, but the doctor saw indications of MTHFR deficiencies. Actual blood work confirmed that she has both Heterozygous 677C and Homozygous wild 1298A. She has been diagnosed with stomach migraines and has had a G tube for failure to thrive when she was only 2 yrs. old. She continues to have trouble gaining weight. Could there be a coorelation with these defects and her inability to gain weight as well as the stomach migraines? Also, she has a GI appointment coming up; is there anything else I should have them look into that could be related? Thank you so much!
    Andrea Gaines

  • Theresa Stein says:

    My husband had a pulmonary embolism in 2009. He survived, thank god.

    Lab results showed that he is positive for A1298C MTHFR mutation BUT negative for C677T MTHFR mutation.

    Just FYI. His embolism was caused by excessive minute blood clots that lodged in the lungs. It can happen at *any* time, according to the genetic counselor, because of the mutation.

  • sheila says:

    I have a ++ MTHFR A1298c SNP. I am seeing a functional med m.d. from your list of qualified doctors, but he didn’t address this or any other SNP at my follow up visit. I have 6 SNPs that are ++.

  • Amelia Medina says:

    Hello! So I just received my lab work and a was positive for one copy of the A1298C variant – it states individual is heterozygous for A1298C variant and negative (normal) for the C677T variant in the MTHFR gene. I was encouraged to get this test because I have had thyroid cancer 9 years ago and was recently diagnosed for a rare breast cancer! I told my doctor that I always had problems with detoxing – always in pain with my neck hips and now I have cancer again. I really feel like my body does work well and now since this DNA mutation for MTHFR I wonder if this could be my issue all along. could this be the case???

  • Sally Mitchell says:

    Hi dr lynch,
    I have the homozygous A1298c mutation
    And have had fibromyalgia most of my life. I pretty much have my fibro under control but it’s my headaches/migraines which are killing me.
    They are daily and ruining my life
    I don’t know what to do
    What supps do I take?
    I’ve just found a bioceuticals b and cq10 complex with b2,b6,b9 and b12 with folinic acid.
    Should I take this? And what else do you suggest?
    I’m desperate for help

  • Karolina Maruszczyk says:

    Dr Lynch,
    After miscarriage, I found out that I have got MTHFR 1298ac mutation(heterozygote)It was one year ago. I’m takig folates and my homocysteine level is about 8. Also I’m taking vit. B12 and b6 (metyl form). I really want to try get pregnant Again. Should I take any others vit? What about choline (b4)? Is it important or it is safe in my mutation ? What is the most important? Knowlege about this mutation is not so big and doctors still are saying that normal b9 instad folian is Ok and that homocystein level is not important (i had 11 now a have 7/8- after taking folate).

  • Gloria meza says:

    Hello dr.lynch in 2011 i was diagnosed with mthfr i have the C677T and. A1298C my partner has a copy of the C677T only i had 4 miscarriages in the past on nov 2017 I ha d the gastro by pass surgery. I don’t have an idea of what to take my primary doctor hasnt guide me on my condition neither my GYN DOCTOR they don’t seem to understand these condition. I’m trying to get pregnant once my doctor recommend it from my surgery total recovery but I want to take the right supplements and eat the right Foods I’m so confused that i don’t know where to start.

  • Ashley says:


    So intrigued to find I’m homozygous for a1298c – GG. Might explain why my homocysteine is always high (not excessively) and I had a B12 level below 200 in 1994-5 and have been supplementing since. Methyl sublingual. I have ALWAYS wanted to know why why why, and doctors just say “don’t worry about that.” I also have IBS-C, and my structure doesn’t help – my colon is extra long and redundant. I have Depression, anxiety, short term memory and proper noun memory difficulty.

    Can’t wait to learn more. Will it harm to take methylfolate in a reasonable dose?


  • Robin says:

    Recently have done DNA testing and loaded onto prometheas. I have both A1298C (a;c)& C677T (c;c). I have had a brain tumor removed and I have Hashimotos. I know this mutant has to do with both. IM just not sure if what is above needs further looking into…my gut says yes due to other issues going on. Can anyone give me some resources to further explore.

    Thanks so much

  • Amber says:

    I have a1298c and I was wondering if the diet is the same as the c677t?

    • Dr Lynch says:

      Short incomplete answer, yes.

      Yet it depends more on the rest of how you are doing – requires a full picture. Please read my book, Dirty Genes, to get the full picture. One cannot determine their dietary requirements based on one gene.

  • Sherina Welch says:

    I’m very new and overwhelmed by this dirty gene. I recently got my daughter tested bc for years, she’s had migraines, failure to thrive, and just a slew of mystery illnesses. She’s sick once a month! So her results came back and she is heterozygous for the A1298C variant and I’m trying to make sense of it. She doesn’t have the other copy which is good but can someone tell me what cons of this one mutant gene? What do I need to do to help her body detox? From what I gather, her body can’t detox right?

  • Carly H. says:

    Dr. Lynch,

    I totally agree with you after looking into why my Genetics Dept. missed a interpretation of the MTHFR polymorphism on a PT that translates ALL MTHFR mutations as “NO INCREASED RISK OF HHCY” due to “lack of evidence & MTHFR polymorphism testing no longer a good depiction of disease/symptoms”. (het/het . 677 &or 1298homo mutant, etc..) (I’ll keep a “cap” on it as to which accreditation the PT survey was affiliated 😉
    As supervisor of our genetics dept & PGx, AND a heterozygous 677 low function variant… I cannot agree with this major affiliation on their statement. I have majority of those symptoms (emotional, mental, and physical) and issues listed above and NO medication or supplement has ever helped even in the slightest. I feel doomed. I even tried MethylFolate Methylcobalamin B12 complex…. still nothing after taking it for almost a year… Any other supplement suggestions?

    What do you think of this reference they used (mind you it is dated Feb 2013!!!) ?
    *see link below: