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.
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:
- assists the breakdown of phenylalanine
- helps form these neurotransmitters:
- Norepinephrine (noradrenaline)
- Epinephrine (adrenaline)
- 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:
- delayed speech
- muscle pain
- irritable bowel syndrome
- chronic fatigue syndrome
- hand tremor
- memory loss
- 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
Possible conditions associated with A1298C MTHFR mutations:
- chronic fatigue syndrome
- irritable bowel syndrome
- inflammatory bowel syndrome
- erectile dysfunction
- 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?
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.
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?
You’ll learn a ton and you’ll be amazed how easy it is to implement what you learn.
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!
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!
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.
Any update on how she is doing. I’m having the same exact issue.
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,
I hope she’s wasnt injected with the heavy metal compound when they did the mri
Can you tell me why you think the dye for MRI would be bad?
I know I’ve read that, in general, Gadolinium for MRI contrast can build a toxicity in body, not clearing quickly as told.
I’m curious if this is more of a danger for ppl w MTHFR mutation, and if so, do you have a link? I see this is an old thread, I’m hoping for answers.
Hi Meg –
MTHFR does not MRI contrast sensitivity. There are likely other genetic variations which may – but I am unfamiliar with them. The Glutathione genes and sulfonation genes and glucoronidation genes are likely way more impactful here.
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
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.
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.
Kim, where are you located?
Asheville, North Carolina
Kim, Here is a doctor listed under Dr. Lynch’s list of psycisians attending one of his conferences:
Marie Andersson, DC
Sage Wellness Group
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.
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.
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.
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!
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.
I forgot to mention i live near Canton Ohio if anyone has a doctor recommendation.
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.
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.
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.
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.
Joanna did you ever find a doctor in your area?
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 –
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.
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 🙂
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.
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.
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.
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.
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
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.
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 🙂
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.
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
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
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.
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?
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 geneticgenie.com (com?) to find out, and you’ll get info on a number of SNPs besides those two.
are research references available giving details of the 1289C mutation, and it’s impact on BH4?
also, if I am understanding this right, the reaction is
BH2 + 5-MTHF + SAM = BH4
Is that correct?
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!
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.
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.
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
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.
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.
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!
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?
This has a link to Dr. Ben’s protocol and he lists a prenatal vitamin called Optimal Prenatal. No Folic Acid and avoid food fortified with folic acid. Good luck!
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?
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.
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!
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
Speech/word finding issues
Can’t process heavy pain medicine or alcohol or anesthesia
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
wow Liz…thats a handful!
You can hopefully get to feeling better quickly with the right help.
Are you in Australia? Sydney?
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.
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.
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.
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?
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.
How do we know which to take? My doc put me on methylcobalmin.
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?
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.
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.
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?
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!!
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.
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?
Heather, it’s a homozygous polymorphism and it means that gene is functioning at about 10%.
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!
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.
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.
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.
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.
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.
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?
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,
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.
Nancy, what is the contact info for your support group? Can you share your email? Thank you.
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.
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?
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?
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!
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
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.
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.
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.
I have a1298c homozygous, and I have trouble with my invitations levels. Now I am confused.
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
What kind of injections are you getting? If they’re cyanocobalamin, they won’t help you. You need methylcobalamin or hydroxycobalamin.
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 )
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?
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.
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…
Hello Roberto, my b12 was 250 pg/mL
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.
I meant to say despite Pascal’s higher B12 test level.
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 )
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.
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!
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.
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…..
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!
Hello Tracey, what was your daughter’s symptoms ?
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.
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
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
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?
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?