Question about MTHFR Mutations? Ask

Question about MTHFR?

There is a lot of conflicting data about MTHFR mutations.

There is also a serious lack of information about MTHFR mutations.

Below you will find many questions and answers. Unfortunately, they are not easy to filter through.

This led me to the creation of the MTHFR Forum here at MTHFR.Net

In the forum, it will be much easier to locate topics you are interested in and post. It will also allow others to engage in the discussion – which is encouraged.

To ask your question, simply visit the ‘Ask a Question’ Forum found here.

I encourage others to answer the questions as well and participate in the discussion.

I look forward to hearing from you – and helping answer your questions about MTHFR mutations.

Please understand that I cannot – and will not – diagnose, treat or prescribe. I will gladly provide my thoughts, opinions and suggestions.

I have closed the comments below in order to encourage you to post your questions in the appropriate place. My goal is to have it easier for others to gain insight and information about MTHFR mutations and a forum is a great way to do that.

Please ask your MTHFR questions here.

211 Responses to “Question about MTHFR Mutations? Ask”

  1. Dzignz November 13, 2011 at 9:02 pm #

    I would like to know what the real implications of MTHFR homozygous mutation are for an 8 yr old girl.?

    Also I have FVL so as they say my girl is Homo does this mean that it came from me?

    I have had 2 PE’s and on lifelong warfarin, although my girl has not got FVL should she be taking precautions ‘suppliments’ from now?

    • Dr Ben November 14, 2011 at 7:55 pm #

      Hello –

      The implications of C677T MTHFR mutations – for any age – can be severe.

      I highly recommend considering talking with a physician in your area who is knowledgeable about MTHFR.

      Given that your daughter is homozygous for the C677T mutation, one copy came from you and the other came from her father.

      I highly recommend testing yourself for C677T if you do not know – but it sounds like you, too, are homozygous C677T.

      Her father needs to be tested for MTHFR mutations in order to take appropriate actions.

      I do believe your daughter should be taking precautions now.

      Fish oil, vitamin C powder and a complete children’s multivitamin with methylfolate, methylcobalamin and pyridoxal-5-phosphate are pretty critical for her.

      If you are homozgyous MTHFR, I recommend Optimal Multivitamin for you as it also has the active forms of folate, B12 and B6.

      Talk with her doctor about nattokinase as a potential enzyme to help reduce fibrin. I am not sure if she needs that or not. Hard to say without full history and work up.

      In health,
      Dr Ben

  2. betsy November 16, 2011 at 1:16 pm #

    my 3 month old grandson has the butt dimple associated with tethered cord. We saw a pediatric neurosurgeon and he assures us it is low enough where it won’t cause him any problems but he is going for an MRI just to confirm. My question is ….I understand Tethered Cord is connected to MTHFR, does having this dimple mean he definitely has as issue with MTHFR? Shouldn’t the neurosurgeon have said something if he does. I was going to ask when he goes in for his MRI if they would do blood work. Is this reasonable? If so how should I ask? I don’t want to sound like a fool, as I really don’t know a whole lot about this….

    Thank you,

    • Dr Ben November 16, 2011 at 11:51 pm #

      Hi Betsy –

      I understand your situation. You don’t want to sound ‘like a fool’ but also don’t want to think ‘I should’ve said something!’

      There is no way to know definitely the cause of your grandson’s tethered cord without digging. Asking the neurosurgeon questions is…digging. I admire you for doing so and wish more people had the wherewithal to do it.

      Go for it. Ask for testing.

      If you want, test your grandson’s parents for MTHFR first – if they are positive, then test baby.

      Read this informative article on tethered spinal cords written by some neurosurgeons.

      Always approach doctors with questions with respect and not like a know-it-all. This way they are receptive and more likely to consider it. Many doctors don’t like to be challenged and get defensive.

      I would approach it simply stating something like:
      ‘Doc, is there a connection between folic acid and tethered spinal cords – if so – what percentage are related to low folate status in the pregnant mother?’

      wait for answer.

      Don’t challenge him – yet.

      Do your research. Come in with research. This article may show some evidence but it is locked – have to pay.

      I have not seen research with tethered cord syndrome and MTHFR mutations. I have seen plenty with spina bifida and MTHFR.

      Post a follow up comment letting us know what you’ve found out.

      • betsy November 17, 2011 at 1:27 am #

        I thought spinal bifida was connected to tethered cord….Is it not?


        • Dr Ben November 17, 2011 at 1:35 am #

          Spina bifida is one of the causes of a tethered cord. It is not the only cause.

      • phyliss mosca January 12, 2012 at 10:04 pm #

        i am very interested to know more about the butt dimple. is that a potential indicator of a problem or mthfr? I found this site quite “accidentally” and my daughter was born with a butt dimple that we checked with an ultrasound at birth to ensure it was not open to her spine. my sister has the same dimple. my daughter is now 12. i was assured by the pediatrician that there were no possible issues that could be related to it later in life. what would be the signs if there was an issue? is there a test I can ask her pediatrician for? thank you.

  3. Elizabeth November 20, 2011 at 11:09 pm #

    Hello Dr. Lynch,
    Given that I am homozygous for the A1298C genetic mutation (am I even saying that correctly?), and knowing that I do very poorly with methyl donors like DMG and active forms of b12, b6 and L-5-MTHF, what is the proper way to proceed with the needed supplements in a way that won’t make me feel simply awful/SEVERELY achy (muscles, joints, head, etc.)? I can provoke terrible symptoms with very small doses. Even trying to use homeopathic remedies as a “gentle” way to detox, including drainage remedies, I can feel simply awful! I know I need to supplement and detox, but I am so uncertain of how to proceed. Also, Epsom salt baths, if done for more than 10-15 minutes, can give me a raging headache, and there is always a black residue left in the tub when I drain it. How am I supposed to detox when everything I do makes me feel so awful? Can you help shed some light on this?
    Thank you.

    • Dr Ben November 21, 2011 at 10:05 pm #

      Elizabeth –

      Knowing your body and how you respond to nutrients is critical. I am glad you are aware of yours.

      I do not recommend the use of HomocysteX in your case right now.

      Instead, look for a vitamin B12 that uses purely hydroxycobalamin which is a non-methylated for of vitamin B12.

      I also suggest your consider avoid methyl donors at the moment.

      You may have a CBS mutation which is increasing your ammonia levels and further worsening your already defective BH4 pathway (due to the A1298 homozygous mutation).

      Thus, limiting your intake of vitamin B6 is likely indicated as well.

      It is critical you restore your digestion, beneficial bacteria, leaky gut, remove food allergies, remove toxins in the home or limit them as much as possible, eat healthy foods, filtered water and consider Coffee Enemas.

      Coffee Enemas are a great way to eliminate toxins through the digestive tract quickly. If you are interested in learning more, visit the PurE Coffee page or listen to the coffee enema podcast.

      You have to SLOW down detoxing and do it carefully and methodically.

      I am happy to help you with a consult here if needed. Detoxing properly is tricky and there are certain steps needed to be done before, during and after detoxing. If done properly, you feel great.

      I would start with a Trace Mineral Complex and added Molybdenum.

      The minerals are critical in many enzymatic functions and if anyone is deficient, it may lead to an accumulation of metabolites causing muscle pain, fatigue and so on.

      The added Molybdenum is key to help you process the sulfates and sulfites. You may be having a mutation in the SUOX gene which when compounded with the MTHFR A1298C – ouch. If you take about 500 mcg a day of Molybdenum, this will greatly help process your sulfates/sulfites and may help reduce your muscle pain significantly.

      Vitamin C helps reduce oxidants and stabilize histamine – both of which are likely elevated in A1298C homozygous individuals. I highly recommend you consider taking 1 teaspoon of Optimal Vitamin C mixed in a glass of filtered water one to three times daily. Optimal Vitamin C combines buffered ascorbic acid powder along with quercetin and rutin. It is also naturally flavored so it tastes excellent. You will find you drink more vitamin C with Optimal Vitamin C and hopefully you will feel better as well.

      I can think of a few other things to help support your A1298C mutation which will help reduce muscle pain and fatigue. CoQ10 which is the most active form, Optimal Turmeric which uses Meriva Curcumin which is very well absorbed, D-Ribose Powder, Acetyl-L-Carnitine, and time-released niacin.

      Always introduce 1 supplement at a time. Allow 1 week between adding a new supplement so you know which ones make you feel good and which make you feel worse.

      I have carefully selected ones here which should only make you feel better; however, each person is unique.

      Keep me posted.

      • Elizabeth November 22, 2011 at 2:47 am #

        Thank you so VERY much! However, I would like to clarify with you the amount of Molybdenum. I am guessing you mean 500 mcg, not mg. Your website listing of Molybdenum says 3 drops is 75 mcg, so you would want me to take 20 drops a day to achieve 500 mcg? Just so you know, I have learned to start everything low and slow! If I don’t, I will pay the price physically! Some days I just ache all over, and haven’t done anything that I am aware of to provoke my symptoms, although, chemicals and people wearing perfume can do it (and my ever favorite of being forced to breathe in outside air laced with scented drier sheet fumes!) I am looking forward to being able to deal with these body aches, and then actually being able to detox. I received my enema kit last week, and will be taking some taurine to ensure good bile flow. I intend to consult with you in the near future, but wish to get my son tested for the MTHFR defects prior to doing so (he is high functioning Aspergers Syndrome). Thank you for your willingness to literally dive into the MTHFR issues and help “us” figure what to do about it!!!

        • Dr Ben November 22, 2011 at 4:57 am #

          Elizabeth –

          Thank you – I corrected my amount of molybdenum ;)

          It is 500 mcg – definitely – NOT mg.

          I feel you may get significant benefit from the suggestions above. Molybdenum is a true unknown winner for many especially when combined with other minerals such as zinc, selenium, magnesium, manganese et al.

          Yes – you would need to take about 20 drops a day of molybdenum. I’d like to see you on about 1 mg a day of molybdenum for about 1 month and then drop down to 500 mcg. Need to get the excess sulfites out and I believe yeast/candida may be playing a role in your fatigue, muscle aches which further supports the need for Microbial Defense and Molybdenum. The ProBiota 12 Powder taken at 1/2 teaspoon a day after dinner is useful as well – not sure if I recommended both of those but in order to reduce ammonia, this needs to happen. Just increase your dose of Microbial Defense slowly so you don’t get too much of a die-off reaction caused by the yeast releasing acetylaldehyde (which the Optimal Vitamin C Powder, Trace Mineral Complex, and Molybdenum will help process).

          Digestive health is paramount for A1298C mutations.

          • Elizabeth November 22, 2011 at 8:04 pm #

            Dr. Lynch….
            You are spot on with your with your guess that candida is a part of my health issues. As a homozygous A1298C person I am struggling with the known 85 or more byproducts/toxins produced by candida AND all the other things I’ve accumulated over the years (including mercury), not to mention the everyday toxins we all face in life, and, well, I’ve got a lot to deal! CFS is something I have learned to work my life around, but oh how I would LOVE to be free of it!!! Just so you know, I am a nutritionist and a purist when it comes to what I consume. I am virtually sugar free (sugar will give me vertigo — quite the motivator for avoiding it), I am gluten free (diligently so), virtually dairy free save a few ounces of raw that I have daily, the eggs and beef and most of the chicken we eat come from local farmers that I know personally, and these animals are organically, pasture raised. I NEED protein to do well, and beef works best for me. At one point several years ago I tried to be vegetarian on a mostly raw diet plus juicing. It was AWFUL for me! Every symptom was exponentially worse! I need good proteins— frequently! I do not eat without digestive enzymes and I take Zypan from Standard Process with every meal…. if I don’t, I will have stomach pains. I am taking probiotics for intestinal/immune health, and OmegAvail from Designs for heath to help ease inflammation (still experimenting with this for the Ocular Rosacea that I have… hoping it will help). I am looking forward to scheduling a consult with you hopefully in December sometime…although I hear you are booking up! I started the vitamin C today and will get back on my CoQ10 from Energetix. I know that I can tolerate both of those in smaller doses… will see how I do trying to increase them. Thanks again for the information.

          • Elizabeth November 22, 2011 at 8:11 pm #

            BTW… I have ordered most everything else you have recommended, just so you know….. Thanks.

          • Elizabeth November 23, 2011 at 3:48 am #

            Oh dear… I’ve been doing some reading on methylation issues and am now thinking that the Taurine is probably not such a great idea for me. I have been having an increase in sensory/brain issues… and now wonder if the Taurine is in part responsible for this! *sigh*

          • Dr Ben November 23, 2011 at 8:28 am #

            Elizabeth –

            Taurine may be elevated in some individuals and low in others.

            Methylation is a balancing act :)

      • Elizabeth November 23, 2011 at 7:12 pm #

        So…. if I am understanding the CBS issues and also the SUOX issues… Taurine, in excess, further complicates the issues when it processes into and gets stuck as a sulfite… which is part of my brain fog issues — which I have seriously stirred up and can’t seem to calm down (I’m thinking it is time to try a coffee enema… I don’t have molybdenum yet… ordering it though). Trying to keep being me with all of these issues (pain and brain fog, etc, etc.) — especially as tomorrow is Thanksgiving — is VERY hard. I wanted to use the Taurine to ensure good bile flow for the coffee enemas! Instead, I have created more problems!!!
        Would you agree with the following statement:
        “Low histamine points to over-methylator: If your histamine level is low you are probably an over-methylator (according to Pfeiffer research). This means that many supplements would be detrimental to him (those containing methyl). These would include taurine, GABA [both precursors to methyl activity in the brain], folic acid, B12, B6, DMG, TMG (and SAMe) – to name a few.”
        This list looks extremely familiar to me (I have figured out that I ‘react’ to most all of these supplements)… but I think that histamine is also a problem for me… so I don’t understand the conclusion drawn by this author.
        Complicated stuff to be sure.
        Happy Thanksgiving!

  4. Melissa Mackay November 27, 2011 at 5:49 pm #

    Hi Dr. Ben,

    I have been learning about MTHFR and am wondering about the science of it all. If I understand it correctly, the gene defect causes significantly less of the bioactive folate to be created. And I understand that there are two common defects (677 & 1298) which cause different medical issues (for example heart issues in 677 and low seratonin production in 1298 to name two). However, if it’s just a matter of not creating enough bioactive folate, why don’t all defects create the same symptoms? It seems like “not enough folate” would cause the same thing in all persons no matter what specific gene defect caused the deficiency.

    • Dr Ben November 28, 2011 at 6:16 am #

      Melissa –

      Great question.

      The MTHFR defects are in different areas of the MTHFR gene.
      The 1298 MTHFR enzyme mainly functions in the BH4 cycle while the 677 MTHFR enzyme mainly functions in the Methionine cycle.
      This is a major reason – if not the main reason – why those with different MTHFR defects present with different symptoms.

      Those with A1298C mutations do well with 5-MTHF typically – but they also need more than that as the BH4 cycle is critical to reduce ammonia levels, produce nitric oxide and produce neurotransmitters.

      Those with C677T mutations do well with 5-MTHF typically but they also need methylcobalamin, TMG, B6, B2. The methionine cycle is needed to reduce homocysteine levels, produce nutrients to support detoxification, provide methyl groups for their numerous functions, produce energy and DNA/RNA repair.

      There are other reasons why the two MTHFR defects don’t create the same symptoms:
      1) Some people may also have mutations in their MTR, COMT, CBS, MAO A, VDR genes which alter the use of 5-MTHF. These mutations compound the problem and further complicate the biochemistry immensely.

      2) Heavy metals play a huge factor in enzyme function – not just mutations. If an enzyme is in the presence of lead, mercury, cadmium, aluminum, arsenic or others – this enzyme may be significantly affected – this is why children who have the MTHFR mutation should not get vaccinated! This is a MAJOR link between autism and vaccinations – this is one of the reasons why some children are severely affected by the vaccinations and others are not.

      3) Diet and lifestyle. If one leads a life which is active, joyous and eating healthy foods, their symptoms are going to be completely different than those lives who are the opposite: stressful, sedentary and the processed foods junkie.

      The body is VERY complex and there are biochemical reactions going on every millisecond – 100’s or 1000’s or millions of them. Each one of these reactions utilizes various nutrients and if any one nutrient is low or the enzyme is being destroyed by heavy metals and other environmental toxins, simply taking 5-MTHF is not going to cut it.

      This is why those with MTHFR mutations can be very difficult to treat.

      People can be very difficult to treat. Period.

      Adding the complexity of MTHFR gene mutation, which has very important roles in the human body, makes it even more difficult.

  5. Lucky November 28, 2011 at 4:25 am #

    Hello Doc,
    I am doing research on MTHFR polymorphisms. I am going to check the effect of these mutations on homocysteine levels by estimating it quantitatively. But a small ambiguity is here, the elevation of homocysteine is due mutation in MTHFR gene or it may be by the deficiency of folicacid, vit-B12, B6. Give me some idea to clear my ambiguity in how to correlate the MTHFR mutations with homocysteine levels?

    • Dr Ben November 28, 2011 at 5:50 am #

      Elevation of homocysteine may be due to low B12, low B6, low folic acid, low TMG, a C677T MTHFR mutation causing low levels of 5-MTHF – to name a few.

      The MTHFR mutations – especially the C677T form – elevate homocysteine because:
      1. Methionine is ingested through supplementation or diet. (Methionine containing foods)
      2. Methionine breaks down into homocysteine.
      3. Homocysteine requires certain nutrients to be broken down: B12, B6, 5-MTHF, TMG, B2 to name the main ones.
      4. If 5-MTHF production is blocked by the MTHFR mutation, homocysteine can elevate is the diet is high in methionine and the individual is also low in nutrients such as B2, B12, B6, TMG.
      5. 5-MTHF is a major recycler of homocysteine –> methionine.

      I feel that MTHFR mutations severity should NOT be just solely based on elevated homocysteine levels.


      Because there are other nutrients and dietary factors which play a significant role in homocysteine levels.

      This then also begs the question:
      If homocysteine levels are fine, does one need to be checked for MTHFR mutations? YES


      Long story but 5-MTHF does way more than recycle homocysteine.

      5-MTHF also assists in the production of DNA/RNA, blood cell formation, detoxification, neurotransmitter production and balance – to name a few.

      Hope that is useful for you.

  6. Jessica November 29, 2011 at 11:41 pm #

    About 3 years ago when I went in for an annual exam, the lab notified my doctor that I had a MTHFR mutation. I remember after this that she drew blood to check my homosysteine levels, though I can’t remember what the outcome of that test was. I have recently started researching the mutation to discover what the implications are and what I can do to help myself. I have learned that there are many different types of the mutation and a month ago I contacted my doctor to find out if they knew what type I had. She looked over the lab results again and it didn’t state what it was but she was going to look into it. I have contacted her numerous times and have not received any response. I am wondering what I should do or if there is someone in my area (Northwest Iowa) that has more knowledge on the mutation. Besides the blood test for the homosysteine levels, I haven’t had any other tests done. All I know is that somehow the labs could determine I had it with the results of my pap smear.

    • Dr Ben November 30, 2011 at 7:08 am #

      Hi Jessica –

      Please get the results from your doctor. Your doctor has to comply with your desire to see the lab results. Put it in writing and give it to the receptionist. You may have to sign a release.

      You most likely have the homozygous C677T mutation because the A1298C mutation does not have elevated homocysteine.

      • Jessica December 15, 2011 at 5:47 pm #

        I got the results from my doctor. The results state, “This individual is heterozygous (one copy of the abnormal gene) for the MTHFR C677T mutation, and normal (homozygous wildtype) for the Factor V Leiden G1691A and the Prothrombin G20210A mutations.” As for the homocysteine test they did days after, the value was 13.3 which was in the high level for normal which they state as 5.0-13.9 uMol/L. What does this mean for me? Thanks!

        • Dr Ben December 15, 2011 at 9:08 pm #

          Jessica –

          Talk with your doctor and see what they recommend for you.

          This means your MTHFR C677T mutation is blocking the conversion of homocysteine to methionine a bit – by about 40% or so. So you need to reduce homocysteine by taking methylfolate and methylcobalamin along with other nutrients such as B6, TMG and B2.

          HomocysteX has these nutrients in it. Consider taking 1 capsule a day for a week and then increase to 2 capsules. Talk with your doctors when you should remeasure homocysteine levels.

          If you are clotting, you need to talk with your doctor about what to do there.

  7. Michelle Moody November 30, 2011 at 2:14 am #

    Dr. Ben,

    My daughter and I both are homozygous for the MTHFR C677T mutation. I have many medical issues and recently diagnosed with Lupus and Scleroderma after an Interstitial lung disease diagnosis at UT Southwestern this summer. I have a son that hasn’t been tested but both kids have Raynaud’s and blood clotting issues as do I. I asked about passing these issues down to them and they said what I had was not genetic. I have a hard time believing that. My rheumatologist put me on methotrexate and I got extremely sick. My daughter was tested by her OBGYN for this gene during a blood clotting panel test. They told me I had to have at least one copy since she had two. I was tested and then read how toxic it is for someone that is MTHFR homozygous to be on methotrexate. Stopped that and now on Imuran. I had a heart ablation and my pulmonary vein was burned closed so it’s hard for my doctors to know what I was born with and what was “damaged”. I’m on 15 prescriptions and would like to get off some but the doctors claim each one is life-saving. I have protein S deficiency so I’m on coumadin for life. I’ve had a PE in my pulmonary artery and 2 pseudo-aneurysms (after surgeries) I’m beginning to think my veins are the problem! Could any of this be from the MTHFR issue or should I be looking into the possibility of another genetic connection. I have several doctors that are at the top of their filed at UT and they either had never heard of MTHFR before or didn’t think it was anything to worry about. However, my chiropractor knew about it and was concerned! She said the literature seems to be changing and is contradicting…hard for her to even figure out what is best for someone who is homozygous for the C677T mutation. Any advice would be helpful to me and my children!!!


    • Dr Ben November 30, 2011 at 7:05 am #

      Hi Michelle –

      I am sorry to hear your situation. There is a lot going on that may be related to the MTHFR mutation – and there may be other issues as well. Having the MTHFR mutation sets one up for downstream issues such as autoimmune diseases due to increased toxicity. This is caused by decreased methylation and detoxification abilities.

      Due to the complexity, the only way that I can be of any use is via a one-on-one consult. I am happy to work with you if you like. I do believe you’d get some benefit.

      For the time being, a great starting point is to read the Paleo Solution by Robb Wolf. I believe all should be off gluten and dairy products – especially if one has autoimmune conditions.

      I have been able to help people reduce their medications with their doctor’s permission a number of times. In your situation, some medications appear necessary but all 15? I doubt it.

      MTHFR is a big issue and doctors need to know about it. I am quite knowledgeable about MTHFR and have the added ability to see bigger picture issues which, I believe, offers a more comprehensive approach. We cannot blame everything on MTHFR. I wish…

      There are likely other medications that are conflicting with your MTHFR mutation and worsening your kidney, lung and liver health. It is critical to identify these and get either off of them or find alternatives. Of course, we cannot do that without your doctor’s permission or finding replacements but I think that is easy enough for a few of them.

      Look forward to working with you -

      • Michelle Moody November 30, 2011 at 3:19 pm #

        Thank you so much for the reply. I have been sick for 10 years and never once posted or asked a question on-line because I have so many “specialists” that I see regularly. If there is an “ologist” on the end, I probably have one or two. How did you guess that my kidney and liver health were declining too… all those meds!!!! For anyone else reading this, “Milk Thistle” has saved my liver (so far) but my kidneys are working at 43% from all the diuretics. If I stop those, my ankles look like an elephant. I weighed 125 when this started and now I’m 170 from the prednisone. Out of all 15 meds, I’ll have to say that is the worst drug on Earth… unless you’re going to die and then it’s a great life-saver. Of course I also take Coumadin and a friend kindly told me that it was rat poison (probably not, right?). Anyways, If I could figure out what is making my blood sticky, maybe I could stop taking that one too! Not sure but did I read on your site about Nattokinase? I bought that after doing a lot of research but still afraid to go off Coumadin. I’m not sure if you can take them together or not?

        What I’ve learned from all of this is that doctor’s aren’t perfect… they are just people like us who have a lot of training but they can’t possibly know everything (as much as we would like them to) so PLEASE be your own advocate! I wouldn’t be typing this today if I wasn’t. I appreciate all my doctors and several have literally saved my life but now I’d like to “live”! I’d like to make plans and actually be able to follow through and not disappoint my kids and husband for the 100th time! I also want to save my 2 kids from going down the same path as I did. (having son tested on Friday)

        You probably think I live in a little town and just need a good doctor but I live in Dallas, TX and have access to any doctor at UT Southwestern and they all look at me like I’m from Mars. I’ve heard everything from, “you’re my most challenging case” to “I’ve never seen anyone like you”, to “no one has everything you have and lives!” And my favorite, “it takes a really long time to diagnose auto-immune diseases”. I gave up wanting a name or label a long time ago… now I’m stronger and I want answers!! Yes, I’m stubborn or I wouldn’t be here today. And I wouldn’t be here without the internet so thank you for what you are doing to help people that do live in small towns or big towns with doctors that have never heard of MTHFR! I really think only OBGYNs know about this because of miscarriages so if you aren’t trying to have a baby, who would even think to test for this?

        Hope you have an apt. time soon but I’ll be reading everything you suggested until then. YES… gluten and dairy are my enemies and I stay away from them as much as possible. I wouldn’t even know that if it wasn’t for my chiropractor. MDs do not discuss nutrition (at least not in Dallas!)


        • Dr Ben December 1, 2011 at 1:07 am #

          Michelle –

          Big town. Small town. Doesn’t matter. You are correct – there are few who know about MTHFR. It is too new.

          Believe me, it will pick up just like the BPA did ( I reported about it in 2005) and Vitamin D deficiency (knew this about 2007). Takes medicine quite a while to catch up.

          Then add on the other mutations which medicine will take even longer to catch up on:
          MAO A

          Those are all major players in methylation and when they are messed up, they can amplify the MTHFR mutation.

          For example, those with Autism likely have a CBS mutation as well as a MTHFR mutation.

          Anyhow – I do have appointments available starting next week. They are filling up so if you’d like to schedule a consult for next week, please do so otherwise the following week is looking good.

          Once you obtain your consult minutes, my team will call you to set up the appointment time which works for you and me along with sending you a list of questions I need answered prior to the consult.

          With your history, I recommend at least 45 minutes for the first consult so I can figure out what labs to order – either through me or your doctor. Then after we get results back, we should talk again to establish a game plan.

          I hear you loudly – time to get off your prednisone.

          Let’s work on that one along with the diuretics – of course with your doctor.

          You should be able to start tapering off the prednisone (with your docs permission) after we start you on a few things…and change some lifestyle habits. Very pleased that you are already dairy and wheat free. That is huge. Stay 100% on that!

  8. Jenn November 30, 2011 at 11:35 am #

    I had bloodwork completed 2 years ago showing a mutation in the C667T at the direction of an immunologist. It has never fully been explained.
    I am diagnsed with IBS, B12 deficiencies; Hashimotos; ITP and arthritis. My 2nd child is dx with autism and has the same results. After a miscarriage at 22 weeks; I began having unexplained allergies to just about everything (I received blood transfusions (plasma too) during the miscarriage).

    • Dr Ben December 1, 2011 at 1:09 am #

      Jenn –

      You only have the C677T mutation? How many copies? No A1298C? Your child is also only with C677T – no A1298C?

      Please share the exact MTHFR mutations you both have.

      You looking to try and get pregnant again? Need help learning how to reduce your risk of miscarriage?

  9. Janet Joaquin November 30, 2011 at 5:10 pm #

    I have been diagnosed positive for C677T and A1298C MTHFR mutation. I have seen a doctor but was not given any treatment. I am 58 with a daughter (31) with Spina Bifida. I also have suffered with migraines which started in my teens. My mother (now passed) had severe vascular dementia. I was first made aware of this mutation by my niece who had a full term miscarriage a few years ago and after going through genetic testing was diagnosed with MTHFR. My question is what can I be doing to help prevent dementia later in life or any other medical conditions related to MTHFR. I live in the Fresno, CA area and would like to know if there is any doctors in California that specialize in MTHFR treatment. Any advice you have for me is greatly appreciated.
    Thank you.

    • Dr Ben December 1, 2011 at 12:59 am #

      Janet –

      As for now, I do not have any doctors that I can refer to in Fresno or California.

      I’ve put the word out on medical forums but doctors are either not stepping forward or there are so very few that know what to do with MTHFR.

      I highly recommend your daughter get tested for MTHFR. She likely has it – just need to know which mutations and then provide the necessary lifestyle, dietary and supplemental changes.

      Preventing dementia later in life requires low heavy metal load, reduced environmental exposures, detoxification, necessary nutrients and using your brain by playing piano, crosswords or otherwise engaging your brain.

      Given that you are compound heterozygous MTHFR, the likelihood of excess heavy metals exists.

      The lack of nitric oxide production (due to A1298C) and the increase of homocysteine and clots make migraines an issue. If you increase your nitric oxide production and reduce homocysteine, your migraines may go away. There are other possible causes of migraine here as well such as excess glutamate, food allergies, chemical sensitivities or others. It is hard to tell which are causing yours without further information, tests and trials.

      Dementia is due to heavy metals, low methylation and low blood flow. Compound heterozygous typically causes all of these as you may know.

      Taking nutrients to support healthy methylation – such as methylfolate, pyridoxal-5-phosphate, methylcobalamin, TMG, MSM, NAC – are very helpful. The trick is making sure you are not taking too many at once as you may experience a detox reaction which is not fun.

      Also taking nutrients to support nitric oxide production are also needed – such as arginine, reducing sugar intake.

      Perhaps starting with 1 capsule of methylfolate and see how you are doing with this is a good starting point. It is not a good idea to add on other methylation-supportive nutrients without seeing if you are feeling well with just one.
      Once you find you are doing well with L-5-MTHF (methylfolate in the pure non-racemic form), then you may consider switching to HomocysteX and take 1 capsule a day to start and increase to 3 a day over time.

      I recommend obtaining both L-5-MTHF and HomocysteX to start – just do not begin HomocysteX for 1 week while you are taking the L-5-MTHF. When you begin taking the HomocysteX, stop the L-5-MTHF. If you find you are doing well with it, increase the amount as stated above. It will take some experimenting to see which amount is best for you. You may also need to supplement with additional L-5-MTHF – or you may not.

      If you do not do well with HomocysteX, then you may need to stop and supplement strictly with L-5-MTHF, B12 and Methionine or NAC or MSM. Without trying first to see how you feel, it is impossible to know.

      L-Arginine is also useful to start now as well as vitamin C.

      Krill Oil may be helpful for your migraines as well as it has a potent antioxidant along with EPA/DHA in it.

      Further increasing vasodilation and blood vessel relaxation is done with magnesium. Consider taking 1 capsule three times daily of a pure magnesium.

      Low serotonin is also typically found in those with compound heterozygous or A1298C MTHFR mutations. Taking 5-HTP – 50 mg twice a day – may help alleviate your headaches and migraines – not to mention improve feelings of depression and anxiety.

      These are good starting points.

      Make sure you avoid stimulating things such as MSG and caffeine.

      Remember – do not overdo the methylation support nutrients. Start those slowly. They are the L-5-MTHF and the HomocysteX.

      The rest of the nutrient suggestions may be started now. You may experience benefit quite quickly upon starting them.

      If you have herpes or cold sores, the L-Arginine may aggravate it. If you do have herpes, then simply take L-Lysine in conjunction with the L-Arginine as well to balance.

      A lot of information here…post questions should you have them.

      Do keep me posted and share how you are doing, Janet.

  10. Catrinna Rogers December 1, 2011 at 6:53 pm #

    My 16yr old was tested positive for homozygous A1298C and probable Factor V lieden(sp)…which I have (one gene). she tested in low range for B12 and 13.6 ng/ml Folate serum (normal?). She was put on Folic Acid daily (1mg) and B12. I can’t find the reason for the folic acid since it was in normal range. She also tested high and low on a few other things…calcium etc. and a few more test were ordered. Before any of this she had been complaining of headaches, loss of balance, memory problems, fatigue and a recent faint heart mumur was detected which checked out ok via echocardigram. My question/concern…why the folic acid and are there other issues to look into? I,ve read so much and am aware of future pregnancy complications (I had fertility and miscarriage issues)….but from what I gather, this double mutation is no big deal?

    • Dr Ben December 1, 2011 at 8:24 pm #

      Catrina –

      Please read this article which discusses A1298C MTHFR mutations.

      Homozygous A1298C is something that is serious and should be addressed.

      How are her headaches and symptoms now after she is taking the folic acid and B12?

      Her serum folate levels may be normal but are her serum 5-methylfolate levels normal? Very few labs test this value and this is the value to evaluate.

      If her serum folate levels are normal, and she has a homozygous A1298C mutation, the likelihood of her serum 5-methylfolate levels being low possible.

      The MTHFR enzyme processes folate into methylfolate. Since she has a defect there, and a pretty severe one, then her methylfolate levels are likely low.

      I also hope she is taking methylcobalamin or hydroxycobalamin as cyanocobalamin is vastly inferior.

      There are other issues to look into – yes – reading the article on A1298C mutations which I’ve linked above will be helpful.

      Please do comment how her symptoms are now while taking 1 mg of folic acid and B12 – and let me know which forms of folic acid and B12 she is taking. Thanks!

  11. Elizabeth December 2, 2011 at 1:46 am #

    Dr. Ben,
    In keeping up with all the questions and answers of this post, am I understanding correctly that people with A1298C mutation should not ingest gluten or dairy? I have learned that I do not do well with them, but I did not relate it to the A1298C issues. Is there a genetic mutation correlation to this? I am intrigued by the nutritional influence of this mutation and would love more insight into them.

    • Dr Ben December 6, 2011 at 6:55 am #

      Elizabeth –

      I am going out on a limb here which some people would love to break:

      I believe that no one should be eating wheat or dairy products.

      Both are highly inflammatory and gliadin (gluten component), is highly destructive to the intestines causing leaky gut syndrome which leads to autoimmune diseases for various reasons.

      Those with A1298C mutations need to be careful with proteins. Protein breaks down and creates ammonia which must be processed. Those with A1298C do not process ammonia well because the BH4 pathway is compromised.

      Methylfolate helps support the BH4 pathway and so does arginine - so I recommend both of these.

      Microbes in the gut – harmful ones – produce ammonia as well – especially helicobacter pylori. If these harmful microbes produce and remain unchecked, ammonia levels rise and cause a depletion of methylfolate and ammonia further builds up. This leads to neurotransmitter imbalances – low serotonin and dopamine to name a couple. These – when low – lead to ADD/ADHD, anxiety, depression, mania and others.

      Leaky gut syndrome causes literal holes in the intestine. These little holes leach metals into the tissue space which then accumulate and cause increasing body burden of chemical which then consume much needed nutrients as vitamin C, selenium, magnesium, zinc and so on.

      This is a complex process that if unaddressed – can make one quite ill, infertile, miscarry, have fibromyalgia, severe depression, elevated heavy metals, dementia, speech delays, autism and so on.

      So – doctors out there who say that A1298C have normal homocysteine levels and are ‘fine’ are WRONG!

      If docs look at the biochemical wheel of how A1298C mutations work with the BH4 pathway, they will see that nitric oxide production is severely limited.

      Severely limited nitric oxide production is a nightmare…

      Anyhow – you got me on a roll and I’ve more comments to answer, 6 consults to do tomorrow followed by my oldest son’s indoor soccer team to coach in a heated game so I best go ;)

  12. Jacque Boyce December 2, 2011 at 1:04 pm #

    I am a 36 year mother of 5 living children. After one of my daughters were stillborn blood clots were found and test showed I had mthfr c677t mutation and protein c -. My mum had strokes in her early 30s and my brother had strokes and dvts before 30.

    My eldest daughter has been tested and she was neg
    2nd eldest positive for mutation
    Eldest son positive-awaiting results of homecistine
    My husbands has also been tested and was shocked to find he also had the mutation.
    Our youngest children aged 5 and 2 will be tested on wednesday and we are fearful of their result.
    The 2 year old has had bowel and stomach problems since birth as had his older brother.
    We are very confused at present regarding the future of our children and would be very grateful if you could help.
    If as a family you feel we could help you in your research we would be happy to do so.
    We live in London, England
    Kinds regards
    Jacque Boyce

    • Dr Ben December 6, 2011 at 7:23 am #

      Jacque –

      I’d love to help.

      I hope you are finding the information presented at MTHFR.Net useful already. I know it is not enough as everyone’s situation is unique which is why I provide consultations when needed.

      I assume you all have the C677T mutation and none so far have any of the A1298C mutations?

      Homocysteine blood test for MTHFR mutations I think is pretty barbaric. It is a marker that is somewhat helpful for working with people with MTHFR mutations but minimal at best in terms of usefulness. There are many many other factors that are more important to measure or evaluate besides just homocysteine. This is not fault of doctors – or of you – or of anyone. MTHFR is a newly found issue (compared to other medical conditions) and there is little known how to address it.

      Experience and knowledge of biochemistry is how to get around the MTHFR defect issue.

      I highly recommend a consultation once you get blood tests back on your other two children.

      There are plenty of things you can do to help you, your husband and your children.

      In the meantime, please list which mutations you all have – please be specific – like this:
      Eldest daughter: -/-
      Me (Jacque): single C677T mutation ( or 2?)

      Get your youngest 2 yr old son on some potent probiotics and evaluate him for harmful bacteria/parasites.

      Eliminate wheat and dairy from the 2 yr old’s diet for 2 weeks. See how he does with that. Limit sugar intake. I understand this may take time but it is critical.

      Do the same for his older brother.

      I am getting in some chewable kid’s multivitamin with methyfolate, sublingual methylfolate/methylcobalamin and chewable digestive enzymes that I’ve made mainly for children with MTHFR. Capsules do not work for them – too hard for parents and impossible for them.

      These will all be available next week and I am anxiously awaiting their arrival.

      Please sign up for the MTHFR.Net newsletter- you can do so at the bottom of any article or simply go to homepage and put your email in the box there. In a couple days, you’ll be emailed a survey. Please fill that out – that will be very helpful for you and for me.

      We’ll get you and your family better! :)

      • Jacque December 13, 2011 at 7:31 pm #

        Thank you very much for your reply. I will do a more detailed reply as soon as I have my youngest children’s results.

        You mentioned about dairy and wheat… Myself, my eldest son and my 2 year old all have problems with dairy and wheat. Youngest son is dairy and wheat free. My elder son is being treated at moment for unexplained bells palsy which is the the reason his blood was looked into. He has also had his homocysteine level measured and the dr is also looking into his abort to absorb b vits and said something about effect on his heart.

        My youngest son has had problems with heartrate and we were told his heart as an organ is fine but something is affecting it.

        As soon as I get his results I will do a more detailed history.

        Thank you again

      • Jacque December 16, 2011 at 2:53 pm #

        Dr lynch.

        We now have the results

        Me Jacque single c677t + protein c-
        Husband single. C677t
        Eldest daughter – clear
        Next Daughter single c677t
        Eldest son single c677t
        Youngest Daughter singlec677t
        Youngest son single c677t

        The two eldest daughters are not my husbands children. We are all due to see a specialist in the uk in January.

        He has already tested my eldest sons vitamins levels and homocysteine.

        He explained the condition could make his blood sticky and he mentioned his heart but hasn’t really explained much more.

        As I’ve said both my sons have had stomach problems since birth. Their problems are identical but luckily youngest son has escaped surgery so far.

        I suffer with low bp and heart palpitations. I have lots of trouble with blood sugar, as do the boys. I notice if they eat a large meal they will both have raging thirst.

        I definately want to invest in supplements for them. They do currently have supplements but dispite this and a healthy diet, both boys are often mildly anaemic.

        I’m going to take some time to read through the site but I’m still confused over the MTHFR mutation.

        Thankyou in advance Jacque

        • Jacque December 16, 2011 at 2:55 pm #

          Sorry, it should read: youngest daughter- clear

        • Dr Ben December 16, 2011 at 5:40 pm #

          Jacque –

          I say just work on the stomach issues and your symptoms – I believe these are outside of MTHFR.

          Happy to work with you via online consults. Need to ask a lot of questions before I can make any suggestions.

          • Jacque January 4, 2012 at 8:04 pm #

            Thank you very much Dr Lynch and a happy healthy new year to you.
            I have eliminated wheat and dairy from our diets and have seen a slight change in my two year old. I have had huge improvement with my stomach problems.

            I have since been diagnosed with M.E/CFS. We are due to have a family consultation with Prof.Smith in the UK in a couple of weeks and will update then.

            Many Thanks

  13. polly December 3, 2011 at 2:23 pm #

    I have a 10 year old nephew that has MTHFR he has had a stroke on his right side,He can’t seem to learn in school,or consontrate (SPELLING)…He had the stroke about a year ago, and just told his mom yesterday he had MTHFR. What i would like to know is this sickness ever going to get better or is it life threating? How come it took so long to find out that he has this. how do they find out which parent he got this from, and she also has another son should he be tested fot the same thing? polly

    • Dr Ben December 6, 2011 at 7:34 am #

      Polly –

      I am sorry to hear about your nephew.

      This MTHFR gene mutation is fairly new. In a few years, it will be very well known as a major health issue but for now – it is a hidden time bomb.

      Media will step on it soon enough and that is what I am trying to do – I am trying to speed up awareness of MTHFR by this website and will be very proactive in doing so. Right now I am very focused on helping readers get better one-on-one but I really need to spend some time and get on TV and radio so MTHFR is brought to the forefront so future kids don’t have to suffer what your nephew went through.

      This is not a sickness. It is a genetic condition that is for life. However, the good news is it can be supported through proper nutrition, lifestyle and dietary choices.

      Which MTHFR mutation does he have? Please let me know – either C677T or A1298C or a mixture?

      The parents need to evaluate their family history. Which parent has a history of early heart problems? Clots? Migraines? That is the parent to test.

      I would definitely test his brother so they can prevent a stroke if this child has C677T.

      I highly recommend getting your nephew on HomocysteX and have him take 1 capsule a day. I am getting in some chewable and sublingual vitamins which will also be helpful for him – they are arriving my facility soon.

      Keep me posted how he is doing.

      If his parents want to schedule a consult with me, please let them know it is possible. I do not want further strokes to happen. There are a few things his parents need to learn and I’d love to help guide them for the safety of their children – and perhaps for them as well as they passed on the MTHFR gene defect.

  14. Jay December 3, 2011 at 4:00 pm #

    Hi Dr Ben,

    I am currently waiting for karyotyping results after several miscarriages. Will this test show if I have an MTHFR mutation, or is it a different one that is needed?

    Thank you.

    • Dr Ben December 6, 2011 at 6:14 am #

      Jay –

      I am not familiar with karyotyping. I’ve never ordered it nor have seen any results from it.

      I always order a simple blood test which identifies if one has the MTHFR mutation or not.

      When you find out your karyotyping results – could you please comment and let me know if MTHFR is tested for?

    • Jacque December 6, 2011 at 7:21 am #

      Hi Jay,

      We had karyotyping after we lost our daughter and from what I remember MTHFR was not looked for or found. I believe that they karyotype to look for Edwards syndrome and other genetic syndromes.

      • Dr Ben December 6, 2011 at 7:52 am #

        Thanks Jacque for your very useful comment. I edited your comment per your correction.

  15. Amber December 4, 2011 at 3:20 am #

    I am just finding out more about MTHFR. My son was born at 26 weeks weighing 1 pound 7 ounces due to pre-eclampsia and placenta previa. A year after, during a rutine visit to my doctor he mentioned he had just gone to a siminar for MTHFR and how it relates to pregnancy, depression, and heart problems (which the depression and heart problems both run in my family). I am still gathering information as a whole (as of this moment I don’t know which form of the mutation I have or if it is single or double). What I am wondering is what effects this could have on my son (he is only 17 months old). I know the general information for a woman but there is not very much for male specific.

    • Dr Ben December 6, 2011 at 7:50 am #

      Hi Amber –

      The effects for your son depend on the type of MTHFR mutations he may have inherited from you and his father.

      I highly recommend he get tested for MTHFR now so you can take appropriate measures now.

      Talk with his pediatrician and get him tested.

      I HIGHLY recommend waiting to vaccinate him further until you get him tested for MTHFR.

      Those with MTHFR mutations should highly consider skipping vaccinations with Thimerosol and other additives because they are highly toxic to these children because they are unable to effectively eliminate them from their body. This is why those children who get vaccinations sometimes develop autism. Many of these kids have MTHFR mutations and get multiple vaccinations which are loaded with heavy metals, formaldehyde and other additives.

      I don’t mean to scare you but I certainly mean to inform you here. I’ve seen it too often as a physician:
      “My child was fine before he was vaccinated.”

      Make sure your child is getting enough Vitamin D in order to keep his immune system cranking and make sure he also is getting a potent and credible infant probiotic.

      I highly recommend Vitamin D360 – 1,000 IU per 25 lbs – means he will likely get one drop every 3rd day or so. There are 2,000 IU of Vitamin D3 per drop of Vitamin D360.
      If you are breastfeeding him, you may take 3 drops of Vitamin D360 daily and he will get the vitamin D via your breast milk. There will be no need to supplement him directly if you do this.

      I recommend he get 1/4 teaspoon of ProBiota Infant probiotic. His immune system will benefit from the beneficial bacteria found in ProBiota Infant.
      ProBiota Infant tastes good so you shouldn’t have any issue with taste. Give it to him each evening. You may place it directly in his mouth with a spoon.

      Once you find out which MTHFR mutation he may have and which you have, you may schedule a consult with me which will help get you both on track.

      If you have difficulty getting him tested for MTHFR, you may obtain the MTHFR test directly from me. I highly recommend trying to get your doctor to order it though as insurance will likely cover it for you. If you order it through me, it is not covered by insurance.

  16. Jayme Cameron December 9, 2011 at 10:06 am #

    My 6 yr. old son was diagnosed today with Homozygous MTHFR mutation. He has two copies of the C677T mutation. This is the first time I have ever heard of such a condition. I’m having a hard time wrapping my mind around it. His Dr. is wanting to teach me to give him B12 injections every three days for the first 6 weeks along with Folate(as metafolin),Solgar brand. We have to wait for her to order these B12 shots so in the mean time she has me giving him (Protocol for life balance)Nutri dose liguid B-12, 10,000 mcg daily. Does this sound right to you?

    Feeling very ovewhelmed right now and just got my blood drawn today…….?????

    • Dr Ben December 10, 2011 at 1:31 am #

      Jayme – I understand you feel overwhelmed. What I’d like you to understand is you should actually feel relieved and empowered.

      If your child and yourself went through life without knowing you had this MTHFR mutation (I’m sure you have 677 as well – just not sure how many copies yet), then you’d both be at tremendous risk.

      Now you can do something proactive about it and your doctor is helping you with that which is awesome. Thank your doctor for ordering this MTHFR test. Seriously.

      Few things:
      – Test your son’s father for MTHFR
      – Test yourself for MTHFR – I assume you just did
      – Relax and be happy that you are taking care of your son along with you and your family – in a preventative manner – which is truly awesome and empowering.

      On the vitamin B12:

      – Do NOT use cyanocobalmin – period. I looked up the Protocol for Life Liquid B12 and it is cyanocobalamin. That is not good to use for many reasons which I don’t want to get into right now.
      – Only use methylcobalamin or hydroxycobalamin or a mix.
      – If you use too much too fast, you can set up a detox reaction and feel not so hot.
      – Obtain a new vitamin B12 that is not cyanocobalamin.

      I recommend you consider Sublingual Active B12 with L-5-MTHF. This combines 1,000 mcg of methylcobalamin along with 800 mcg of Metafolin per sublingual tablet. Your son can simply put the tablet under his tongue and it will dissolve in a minute or so. This is a new item I just developed so please excuse the lack of image. I will have a professional image up in a week or so. It is available for purchase now.

      Option 1: Consider placing 2 tablets of Sublingual Active B12 with L-5-MTHF under his tongue in the AM. Do not do in the evening.

      Option 2: You may also consider having him take 2 capsules of HomocysteX in the AM and 1 at lunch. This is instead of the Sublingual Active B12 with L-5-MTHF.

      BTW: L-5-MTHF = Metafolin

      Other things to consider:
      – Fish oil
      – Krill oil
      – NAC
      – MSM
      – Multivitamin with methylfolate and methylcobalamin
      – probiotics
      – vitamin D
      – vitamin C

      I personally do not think B12 injections are necessary if the B12 is available sublingually or he is absorbing it well through a quality capsule.

      What is your son’s homocysteine level right now?
      What symptoms is your son experiencing?

      If you’d like to schedule a consult, you may do so here. I have limited times available as the holidays are nearing and times are filling.

      Dr Ben

      • Jayme Cameron December 10, 2011 at 8:50 am #

        I gave my son his first dose of the B12 his Dr recomended this morning before I read your reply.Can you tell me why Protocol Nutri-Dose B12 would not be good for him? This is the type our pediatrician gives to all her patients with this MTHFR.He will only be taking this until we start his injections which she highly recommends. I also gave him 1/4 tablet of the metafolin which she wants me to slowly increase over the next few weeks. I guess, to slowly build up his system. After he reaches 3 tablets a day in about 6 weeks she wants him to take Methyl-guard plus 3 tablets daily for life. She also has him taking fish oil, vitamin D and probiotics as well. I also have a daughter who is 10 who needs to be tested as well. She was diagnosed with PANDAS syndrome about a year and a half ago and with the help of our amazing doctor she has been well since June with an occasional flare here and there but I finally got my daughter back and now this craziness started happening in my son and thats when our Dr.decided to do this MTHFR test. I really trust our Dr. but I know 2nd opinions are not a bad idea.

        • Jayme Cameron December 14, 2011 at 5:51 am #

          Just found out today that I too am positive for 2 copies of the 677 MTHFR gene mutation. Next my 10 year old daughter will need to be tested as well as my husband. Could it be possible that my son got both copies from me and not one from his father? I have suffered from essential tremors syndrome since I was a in my late teens as well as 2 miscarriages, horrible pregnancies with bedrest,pre eclampsia. high blood pressue, migraines and lots of pain. Now I also deal with chronic fatigue, depression, anxiety, foggy head, horrible memory and Im always tired. My Daughter was diagnosed with Pandas syndrome over a year ago and now my son was just recently diagnosed with it as well. Wondering if all of this is caused from the MTHFR mutation…..My sister who is 18 months younger that me just got diagnosed with Reumatoid Arthritis 10 months ago and has not been responding all that well to the horrible medications her Reumatologist has her taking. I told her she needs to get tested for MTHFR ASAP? She must have it too…… Jayme

          • Dr Ben December 14, 2011 at 7:09 am #

            Hi Jayme –

            Yes – your sister should test for it. I’ve good news for you – my wife, Nadia, had Rheumatoid Arthritis since she was 17 yrs old. I met her when she was in her upper 20’s. She is now 35 and is on no medications, hikes, dances, does yoga, and is basically pain free. She has some left over joint destruction which we cannot fix but overall she is fantastic. We healed her gut, altered food choices and supported her immune system, adrenals, thyroid and joints.

            Your husband has MTHFR – at least one copy. MTHFR sits on chromosome 1 and it is impossible for you to pass on two copies of MTHFR to your children. The C677T means there is a defect at position 677 in the MTHFR gene.

            Get your husband tested and your kids.

            PANDAS does seem like it could be related to MTHFR.

            ALL of you need to be eliminating wheat and dairy from your diet immediately. Cold Turkey. Find alternatives to eat – there are plenty. I wouldn’t ask this of you if I didnt do it personally. Our family is wheat and dairy free. It takes time to commit to it 100% but it is such a massive improvement that I highly recommend it – in fact, it is a must.

            For now – I highly recommend you consider beginning HomocysteX. Start taking 1 in the AM upon rising for a week. Then increase to 1 in the AM and 1 before lunch for another week. Then increase to 1 three times daily. Do not take within 5 hours of going to sleep.

            I also recommend considering Optimal Multivitamin – try 3 caps in the AM with breakfast and 3 caps at lunch.

            Increasing your EPA/DHA levels is also critical so consider taking 2 capsules of Optimal Fish Oil daily with a meal – after dinner is great.

            Taking 1/4 teaspoon of ProBiota 12 Powder is critical to establish healthy flora, immune balance and help absorb toxins in the gut so they do not get absorbed.

            Taking 2 drops daily of Liquid Vitamin D3 which provides 2,000 IU per drop is necessary to raise your D3 levels. D3 is needed for hormone production and immune support.

            CoQ10 is an excellent antioxidant which is needed in those with MTHFR mutations. Consider 1 capsule daily with any meal. The form of CoQ10 must be quality otherwise it is not well absorbed and becomes worthless.

            There are other things to go over but impossible to recommend anything else without talking with you first. Electrolytes, neurological support, digestive support, diet, lifestyle and so on.

  17. Courtney December 11, 2011 at 2:18 am #

    I am 26 years old and have been diagnosed with compound heterozygous MTHFR. I have had two miscarriages (November 6, 2011 and January 15, 2011) and then unexplained infertility until I got on Clomid this passed month. I am currently 5 weeks pregnant and have experience severe to mild cramping for several hours straight today and then it moving to my lower back. My doctor currently has me on a baby aspirin and metanx regimen every day. Do you have any suggestions for what I should be taking in addition to this? I am the first person in my family to knowingly suffer a miscarriage until a few months ago when my sister had a miscarriage and found out she also had MTHFR. She already has 3 healthy children and is currently 8 weeks pregnant with her 4th… I can’t seem to keep one.

    • Dr Ben December 12, 2011 at 7:08 am #

      Courtney –

      Talk with your doctor immediately about getting on Lovenox and potentially niacin or L-arginine.

      You need to reduce your risk of clotting and increase your blood vessels ability to relax. Magnesium may also be needed.

      You cannot start these without talking with your physician first.

      Do post an update please.

  18. Heidi Till December 12, 2011 at 7:08 am #

    After experiencing 5 miscarriages, massive migraines and some heart issues that arose during my last pregnancy I was diagnosed with MTHFR; however because the dr that was handling my care said I am only heterozygous she felt the ONLY treatment I would need is 4mg of Folic acid and 81mg of aspirin but nothing further. She said because I’m not homozygous there would be no need for futher treatment if I chose to have another child but couldn’t give me any reassurance of my chances of being able to carry past 12 weeks even though after several weekly ultrasounds there was a heartbeat and growing on time. I recently moved and even this new dr doesn’t feel having MTHFR is important enough to treat if I have another child.

    So my question is what do I do? Do I change dr’s (yet again)? Demand better treatment? I don’t even know what options I even have anymore because it seems nobody cares. And the folic acid/aspirin/B12 hasn’t helped at all, I’m really wondering why take them if they don’t help?

    • Dr Ben December 12, 2011 at 7:37 am #

      Heidi –

      Many physicians do not believe MTHFR is an issue because many studies are showing that it is not that serious if heterozygous.

      Many studies also relate MTHFR only to elevated homocysteine levels and if homocysteine is fine, then everything is cool.

      I firmly disagree on both.

      Now I can also say that many women are looking for a single cause behind their miscarriages. They want to know the answer and many are sticking to the MTHFR mutation that their doctor has recently tested for and found.

      Couple things here:
      1) Awesome that your doctor tested you for it
      2) MTHFR is something to consider for routine miscarriages – absolutely.
      3) There are many many other reasons for miscarriages and a good doctor or team of doctors needs to rule many of them out.

      Further labs need to be done and a thorough history as well.

      I prefer to err on the safe side. Why not be proactive and give the MTHFR some attention if you’ve gone through 5 miscarriages?

      I am happy to consult with you and do what I can to help you locate a physician.

      Three websites to find a doctor that is more likely to be open and err on the proactive side:

      Stay in touch and I want you to know that I am here if needed. I’d like you to keep close by and post how you are doing.

      • Heidi till December 12, 2011 at 7:52 am #

        Thank you for replying. I was tested for everything that could cause multiple losses my dr even thought it might be lupus with all my symptoms. I don’t have lupus or anything else that would cause so many losses. I was tested because a friend suggested it to me. My dr hadn’t even thought to do that test until I asked for it. Hence why I’m at my wits end here. I do have 2 living children however I nearly lost my daughter (my second child) at 6weeks along and was placed on bed rest until week 13 but ever since I had her I haven’t been able to carry past the 12 week mark even tho my last 2 pregnancies had perfect heartbeats and growing on time. When diagnosed my dr didn’t even give me any info on it I’ve had to learn everything on my own and I can tell you from a woman with a loss not knowing is the worst feeling.

        • Dr Ben December 12, 2011 at 8:17 pm #

          Heidi –

          I hear you.

          Be interesting to learn what happens at the 12th week in development. It’s been awhile since I’ve taken embryology. I’ll need to refresh.

          UPDATE: I looked up the 12th week and at the 12th week, there is a massive influx of neurological development. If one has A1298C and it is not optimized, toxic levels of peroxynitrate may be causing nerve damage in the developing infant. It may not be related to blood clots at all – or – it may be a mix between blood clots and peroxynitrate. Mercury is also damaging to developing dendrites. Those with MTHFR mutations do not detoxify well and may have elevated levels of mercury in their tissues, fat, cells and blood. The mercury circulates from mother’s blood into baby’s circulation and into their brain.

          I believe you need to find a doctor that will be proactive in dealing with MTHFR. Taking Lovenox and aspirin together has helped a lot of women. I know one woman who was taking both Lovenox and aspirin and still miscarried. It was until she started taking nattokinase 100 mg twice daily did she actually carry to term. Fluke? I do not know. More research is needed here.

          Your progesterone levels are fine?

          Which MTHFR mutation do you have? 677 or 1298?

          • Heidi till December 13, 2011 at 7:24 pm #

            Dr Lynch I have the C677T which like I said am heterozygous with. Is there anything besides medication I can do for my headaches that last for days at a time? I’m sure you can imagine a lot of us are tired of pills as a remedy.

          • Heidi Till December 16, 2011 at 7:15 pm #

            I tried the links you gave and every dr within a 50 mile radius had no idea what mthfr even was. i found out the mutation i have is the c677t however i have no idea how it even affects me other than the mercury thing you explained. can’t say i like what i found online either it’s confusing and not clear.

          • Dr Ben December 20, 2011 at 9:07 am #

            Hi Heidi –

            MTHFR is confusing, new, complicated and controversial.

            Not a good combination however there are docs out there that work with it -just very few.

            It takes many many long nights of study, working with lots of people and an extensive understanding of biochemistry mixed with environmental medicine and nutrition.

            I happen to have this dedication and skill set which is pretty hard to find.

            If you list all symptoms you are experiencing currently, I can tell you if MTHFR is related or not.

            However, a good physician will not only address the MTHFR mutation but also overall wellness and prevention.

            If you’re up for a consult, I recommend calling my team at 800-547-9812 and they can schedule you in.

            I am writing a book on MTHFR along with making videos but they are running behind as I’m working with so many sick people who are in desperate need of help because docs are dismissing the severity of MTHFR – and boy are they wrong.

  19. Pam December 12, 2011 at 4:28 pm #

    Hi Dr. Lynch,

    First of all…THANK YOU for helping all of us with MTHFR issues. I plan to have a phone consult soon ( after Christmas ). Your knowledge and willingness to help is MUCH APPRECIATED!

    Few questions until then….

    I am heterozygous A1298C and am taking small doses of methyfolate, methylB12 and P-5-P.

    ~ How important is it to take BH4 ? ( did I say that right?)

    ~ What’s the difference between TMG and Betaine HCL? I just started Betaine and digestive enzymes. I had NO IDEA I was low in stomach acid. I did the self test and still get no burning or discomfort with 3 pills and am going to try 4.

    ~ My serum folate was high and my B12 was high. Could I still be deficient?
    My tongue was burning to high heaven but has gotten better with supplementing with the active forms. Cyocobalamin shots did absolutely nothing but make me sleepy ( I stopped using this form ).

    Of course my doctor told me one copy of A1298C was “no big deal” and “does not need treatment”, but I feel like crap! I also apparently have Lyme disease that is not responding to treatment….I feel like ( have always felt like) I can’t detox normally and that had always fallen on deaf ears. The supps I’m taking now have helped a little bit, but I still feel loopy and depressed and severely fatigued.

    Thanks Dr. Lynch!

  20. Elizabeth December 13, 2011 at 5:18 pm #

    Hello again Dr. Ben,

    I have received many of the new supplements I ordered. Several days ago, I took one of the Trace Mineral Complex capsules and within 30 minutes had some serious abdominal pains, and did not feel well for the entire evening. It was like I was coming down with something, only I never did. I really do think it was the mineral complex. I have NOT taken copper for a very long time b/c I was told those with Chronic Fatigue Syndrom should avoid copper and iron (this is a Dr. Paul Cheney theroy) as it oxidizes and causes more problems for “us.” I also know that copper can kill parasites…. at least ionic copper can. I noticed there is a “dose” of copper in the trace mineral complex. I haven’t had the nerve to take another one yet, I’m trying to find a day where I can afford to have the added ill health issues again!!! So, I decided to wait several days and try the molybdenum. Being the sensitive person that I am, I thought I would try 100 mcg. first. I did that for one day, and decided to increase it the next day to 100 mcg. three different times, for a total of 300 mcg through out the day. Within two hours of taking the last 4 drops, my neck was out and feeling VERY bad (tight and painful!). Oddly enough, this scenario doesn’t shock me b/c whenever I take anything that seems to “help” the detoxing process, it usually only aggravates something. I have certain weak points in my spine (C 1 and 2 /atlas, L5, and the SI joints… sometimes tender ribs) and these points will be enormously tender when I take certain supplments (including methyl B12, DMG — especially horrible– P5P, etc.). This, coupled with the muscle and joint pains is very debilitating. I stopped the Molybdenum for several days, and am now only doing 1 drop/25 mcg, and will increase that by 1 drop in a day or two…. and so forth. ANY insite/advice is MOST appreciated!!! (This is why I tend to be called quirkey by my Holistic MD!)

    • Dr Ben December 13, 2011 at 7:16 pm #

      Hi Elizabeth –

      Not fun. The Trace Mineral Complex is potent. It should be taken with a meal – not an empty stomach. The minerals are chelated so they are less harsh on the stomach but if someone has difficulties absorbing nutrients combined with taking them on an empty stomach, abdominal discomfort may occur. I typically recommend Trace Mineral Complex to be taken at dinner so if there is any abdominal discomfort, you are sleeping through it.

      There is no set standard for who should take what depending on what disease or condition someone has. It doesn’t work that way for the most part. Everyone is different and every disease state has slight variations. Some people with chronic fatigue can be anemic – so why avoid iron?

      Given that you’re sensitive, it is best that you take it slowly and add one supplement in at a time to make sure it is working well for you.

      From hearing your story about being sensitive to methyl B12, DMG and P5P, I highly highly suspect you have a CBS mutation which is causing issues. Vitamin B6 speeds up CBS mutations even more and this creates excessive ammonia and hydrogen sulfide. This leads to excessive nitric oxide levels and peroxynitrate.

      So – you may want to avoid these things and try first to limit your intake of protein, take vitamin C, spirulina, royal jelly, electrolytes, high dose probiotics, saccharomyces boulardii, CoQ10, D-Ribose and carnitine. These nutrients help increase your mitochondrial function along with eliminating ammonia excess and peroxynitrate excess.

      Are your nerves bugging you? Tingling? Burning? Numbness anywhere?

      If I recall correctly you have A1298C mutation or?

      Detoxing through sauna and coffee enema and epsom salt baths may be useful. Tried any of those with success?

  21. Dave December 14, 2011 at 6:36 am #

    This is a new question. (I don’t understand if this is the place to submit it?)

    I am homozygous for C677TT. My family is riddled with this gene, and it’s consequences. I am following your advice about vitamins for myself. But at this time many of my relatives are reluctant to discuss this. At this time some are only open to discussions about eating the right foods.

    My question is about the types of folate in natural foods.

    I read that many high folate foods contain the 5-MTHF that we need.
    They also contain large amounts of 5-FTHF called Folinic Acid.

    Do normal people metabolize FTHF into MTHF?
    Do people like me metabolize FTHF into MTHF?

    I am trying to determine if we need to eat twice as many greens as normal people.
    Were we the same as other people before Folic Acid was made, when we all lived off of nature? Or did we always have a deficiency?

    Is it important that the other B-vitamins be “active” forms? If so, what are the names of those that are “active”?

    Much thanks! Dave

    • Dr Ben December 14, 2011 at 7:27 am #

      Dave –

      “Let food by thy medicine.” – Hippocrates.

      I’m all for it. Only issue is there is very little methylfolate in foods and very little information which foods have this active form. Why? There are over 150 types of folate!

      The highest folate containing foods are lima beans hands down – and the folate is well absorbed as well. Most folate gets destroyed when cooking. The other problem of food folate is that the absorption is difficult because of conjugase inhibitors. Conjugase is needed for absorption and many foods have conjugase inhibitors.

      Synthetic folate is better absorbed than food folate sadly. In fact, for every 1 mcg of food folate, only 0.5 mcg of synthetic folate is needed if taken on an empty stomach. This is sourced directly from page 288 of Advanced Nutrition and Human Metabolism 3rd edition book (I’m buying the updated 12th edition come June 2012).

      Food folate is mainly Folinic acid. Folinic acid is not able to convert to 5-MTHF in those with homozygous mutations – or if it is – VERY little of it is. You’d have to eat a ton of foods with folinic acid in order to ‘push’ your way through a faulty gene.

      A homozygous C677T gene is producing MTHFR enzymes which operate at about 30% from normal. The numbers vary from paper to paper but I’d say a range would be the MTHFR enzyme is functioning at about 10% to 30%.

      You want a theory?

      Since we started supplementing our foods with folic acid, more babies have been born with MTHFR. Before they would die in utero. This leads to increased MTHFR mutations because those with MTHFR partner with another person who also has MTHFR. This results in offspring with homozygous MTHFR mutations.


      Our toxic environment has been altering our epigenetics which in turn is affecting our gene transcription. This leads to increased errors which results in more mutations.

      Don’t want to sound gloomy but I personally think that humans are actually ‘naturally selecting’ ourselves off the planet due to the environmental exposures we are creating. It is up to us as parents to have the best epigenetics possible before we reproduce and that is one main reason why I am so caught up in MTHFR. MTHFR is one major issue that is fouling our epigenetics which results in sicker offspring (look at autism on the rise).

      So – if your family wants to use food folate – they can. But with homozygous mutations or compound heterozygous – I wouldn’t food around.

      What I recommend is you showing how much better you feel by being proactive, eating a healthy diet, living a clean life and making the fact that you have MTHFR a moot point.

  22. jasmine December 14, 2011 at 3:22 pm #

    okay, so i had a thrombotic and hemorrhagic stroke last year (three blood clots in my brain, went into coma, drs thought id had a drug overdose so did nothing for three days then ran CT and saw clots and hemhorrhaging so medevac to dif hospital) and when they tested my blood looking for reasons why (bc i was 24 at the time) they found that im compound heterozygous (one c677t, one a1298c), but nothing else. my homocysteine levels are fine, no homocysteinemia, no factor v leiden or anything. there was one thing they checked for that was positive but they ran it again three months later and it came out negative, but i cant remember the name of it (i feel like it started with an ‘a’). im on coumadin indefinitely as of now, but i still managed to get another blood clot (PE this time); so my dr says there’s got to be something else wrong with me they just dont know what it is. is this normal for just having the mutations or do you agree, there’s got to be something else?

    • Dr Ben December 15, 2011 at 1:44 am #

      Jasmine –

      The compound heterozygous mutation is definitely contributing to blood clots. Whether it is the sole reason or not is unclear.

      Compound heterozygous types are very prone to clotting and have the most severe symptoms.

      The MTHFR mutation you have must be addressed. It sounds like nothing has been done for it?!

      Homocysteine levels are not the end all be all marker for seeing if MTHFR mutations are causing a problem – far from – as you are having clots still!

      Talk with your doctor about testing levels of:
      – Methionine
      – RBC Methylfolate
      – lipoprotein little a
      – CRP hs
      – serum ferritin
      – fibrinogen

      If you want to get started working on the MTHFR mutation – bypassing it with nutrients – I do recommend a consult.

      • jasmine December 15, 2011 at 4:29 am #

        really, the only thing thats being done is keeping me on coumadin, i go once a month to check it to make sure its within my range. After the PE they changed my range from 2.0-3.0 to 2.5-3.5 to try to be more safe. i also got really paranoid and limit my vitamin k more than i probably need to :-/

        i usually see the nurse practitioner, which i dont care for because when i told her my symptoms before she dismissed them twice and i had to make an extra appt with my actual doctor who sent me for a CT and found my PE. I have asked if i should be taking folic acid or folinic acid and also asked a few questions about my thyroid and what ever other things i read about within the month between visits (i try to research it a lot, but hard to find info) and she just tells me that because my homocysteine is normal i dont have to worry about it.

        after my stroke i gained like twenty pounds and so i stopped drinking sugary beverages and limited myself to 1200 calories per day… and gained twelve more! ive expressed concerns about it but she just tells me i need to “walk more”, when i asked about my thyroid she said they dont test for that, to go to my primary care dr.. but i dont have insurance, so my hematologist is the only dr i go to. i also have ridiculous anxiety and panic attacks often times, but when i asked if she would write me a prescription for klonopin, which i have previously had a script for, she told me to ask another dr…. i really prefer to see my doctor as opposed to her, hopefully you can see why.

        • Dr Ben December 15, 2011 at 7:34 am #

          Taking only Coumadin for MTHFR mutations is like putting a bandaide over a tack on your foot.

          You have to begin taking care of the mutation.

          Homocysteine is not the only marker for MTHFR issues.

          RBC methylfolate and methionine are critical to evaluate – as well as countless others.

          • jasmine December 15, 2011 at 9:40 pm #

            slightly off topic, but can i donate blood? since my blood is so easily clottable i wasn’t sure if anyone would want it or if there would be any sort of issue with that.

            also, do you think i should be taking folic or folinic acid or b vitamins?

          • Dr Ben December 16, 2011 at 6:58 am #

            Jasmine – you’d have to ask the blood donation center – I’m not sure about the rules there.

            Which mutation do you have again?

          • jasmine December 16, 2011 at 8:39 am #

            im compound heterozygous, c677t and a1298c– does that mean each of my parents has one of these mutations?

      • jasmine January 11, 2012 at 5:55 am #

        i went to my dr for my pt/inr and brought up all of the things you mentioned. i had already gotten my blood levels checked when i spoke to him about it , he told me i could go back to get blood drawn or i could do it in four weeks when i returned, which is what i elected to do. a couple of things he said had been checked before, but he made note for my next visit to order the testing anyways for me, along with testing my thyroid and to see if im anemic. thanks so much, i’ll be sure to let you know how everything turns out and see if necessary precautions are being taken!

  23. Jane December 14, 2011 at 8:22 pm #

    Hi Dr. Ben,

    I am 28, female and have hetero c677t. I have had a ministroke while on birthcontrol pills when i was 24. Since then, i’ve had 2 miscarriages. I am currently 5 weeks 4 days pregnant.

    I am taking neevodha, 3000mcg regular folic acid and baby aspirin. My OB will not start lovenox till i am 12 weeks.

    Do you recommend any changes to the pills I am currently taking? And if so what doses would you recommend? I am seeing my OB and a hematologist next week. What additional test should be run?

    Is there time to make changes now to save the pregnancy from failing?

    I appreciate your time and look forward to your response.

    • Dr Ben December 15, 2011 at 1:24 am #

      Hi Jane –

      NeevoDHA is useful in that it contains methylcobalamin and methylfolate; however, it does not have most minerals, vitamin A, vitamin D.

      What I suggest you consider:
      I also do not recommend taking 3000 mcg of standard folic acid.

      1. Instead, I recommend taking methylfolate. Given that methylfolate is 7 times more bioactive than folic acid, taking one sublingual tablet of Sublingual Active B12 with L-5-MTHF a day would more than match the 3000 mcg of folic acid. This also provides added methylcobalamin.

      If you do not want the added methylcobalamin (1 mg), then consider taking L-5-MTHF instead. L-5-MTHF contains 1 mg of Metafolin per capsule and 1 capsule daily is a suggested amount. Best to take on an empty stomach first thing in the morning.

      2. One capsule of Active CoQH which provides 50 mg of the best form of coQ10. This is necessary as an antioxidant and helps support cardiovascular and energy production. CoQ10 is safe for pregnancy and research shows many benefits with CoQ10.

      3. ProBiota 12 is a comprehensive probiotic which is needed to help support your immune system and the developing babies. This is an absolute must and research is very impressive with probiotics and pregnancy. Consider 1 capsule after dinner.

      4. Vitamin D3 must be taken while pregnant. Take between 5,000 IU to 6,000 IU a day of vitamin D3 while pregnant and breast feeding. Vitamin D360 provides 2,000 IU per drop of vitamin D3. Consider taking 3 drops daily anytime of day – with or without meals. Simply drop the drops directly onto your tongue.

      5. Levels of EPA/DHA are critical for healthy neurological development, decreased inflammation and cell membrane fluidity. Consider two capsules daily of Optimal Fish Oil – take with any meal of the day.

      6. Obtaining sufficient minerals such as iodine, selenium and all other trace minerals is important while pregnant. Also vitamin A and vitamin E are important. Consider chewing 2 tablets of Optimal Multivitamin Chewable after breakfast and at lunch time.

      Consider having your OB run a female hormone panel – especially progesterone levels.

      Thyroid is also important to evaluate:

      • Brett December 18, 2011 at 12:19 am #

        What about reverse T3 insofar as evaluating the thyroid? I would be inclined to include that one, too.

        • Dr Ben December 20, 2011 at 8:54 am #

          Brett –

          rT3 is decent to measure but I always address stress while working with thyroid disorders so to me it is meaningless to order.

          It is expensive and it can also elevate from the stress of having your blood drawn.

          If one address stress and hypothyroid, then rT3 levels naturally will go down.

  24. Dawn December 17, 2011 at 5:12 am #

    I’m trying to find out more info on this Mthfr. I recently found out I have the c677t. My Dr. doesn’t seem concerned, she just told me to take extra folic acid. I had 2 miscarriages before my son was born last year, and I’m pregnant again now. I’m trying to figure out what this diagnosis means to me and my family. What are the symptoms? How does food affect it? What should I avoid? Add? Any information you could give me would be helpful. Thank you.

    • Dr Ben December 20, 2011 at 8:59 am #

      Dawn –

      Please call 800-547-9812 and schedule a consult with my team. I am booked this week but I will make space for you.

      Taking only increased folic acid is NOT enough….and you need further support NOW.

  25. Damian December 19, 2011 at 4:54 am #

    Hello Dr. Lynch,

    Thank you for this informative and valuable site. I recently began experiencing blurriness in my eyes which turned out to be retinopathy and after ruling out common causes such as HTN, diabetes, trauma, and HIV I was referred to a hematologist. Last week I found out I am hetero for MTHFR C677T mutation as well as hetero for Prothrombin/Factor II G20210A mutation. My homocysteine level was normal.

    I already take a regular daily multivitamin as well as fish oil supplements. In your opinion would folate and B complex supplementation be advisable? I looked at the HomocysteX product and didn’t know if it was appropriate? I have also suffered from migraines for years and have been on Topamax for suppression with varied success.

    Thank you for your input and happy holidays.

    • Dr Ben December 20, 2011 at 8:45 am #

      Hi Damian –

      MTHFR is definitely related to migraines with aura.

      One cannot take standard folate if they have MTHFR. They need methylfolate – period.

      HomocysteX may prove useful for you. I find HomocysteX to be more effective for those with C677T mutations and not so much for A1298C – there are many reasons for this which I don’t want to get into right now.
      But the main reason is the C677T mutation works mainly on the methylation cycle while the A1298C mutations work on the BH4 cycle.

      If you do start with HomocysteX, begin with 1 capsule a day for a few days, then increase to 1 capsule before breakfast and 1 capsule before lunch (best 20 minutes before food). Do this amount for a week and then consider taking 2 capsules before breakfast and 1 before lunch. See how you feel. If you feel agitated, you are taking too much.

      Taking an effective magnesium is also critical for those with migraines. Consider taking 2 capsules of Optimal Magnesium in the AM with breakfast and 2 capsules at night with dinner or before bed.

      If your multivitamin has cyanocobalamin or folic acid in it, it is not doing you any good. I highly recommend taking only methylcobalamin and methylfolate. Optimal Multivitamin has both in it along with comprehensive minerals and other nutrients.

      There are other things to consider here but these are good starting points to ponder.

      Have an excellent holiday! :)

      May 2012 bring you a migraine-free lifestyle.

      • Teresa December 23, 2011 at 12:02 am #

        Dr Ben,
        I have a daughter who was diagnosed with heterozygous A1298C, and I have been diagnosed with heterozygous C677T.

        My daughter has idiopathic intercranial hypertension, depression, and anemia. I can see that A1298C could cause the two later problems, and I found one study correlating MTHFR with idiopathic intercranial hypertension. Have you heard of anything? What could she be taking to support her wellness?

        I also have problems with depression (taking some supplements which are helping and I have just realized they include Folate, B12, taurine, and B6- in keeping with some of the thing I have read on your site). My supplements have meant that I have been able to get off meds and my life is dramatically improved.

        What are the differences in what you would recommend for our 2 different variants?
        I have 3 other daughters- could they be at risk for expressing both 1298 and 677?


        • Dr Ben December 24, 2011 at 8:03 am #

          Hi Teresa –

          Glad you are off of meds! That is excellent. I am not happy with anti-depressants as they do not treat the cause of depression – but they definitely have their place when one doesn’t know what the cause of depression is.

          Yes – your daughter is expressing symptoms relating to the A1298C mutation – depression and intercranial hypertension. Anemia as well but that is not as directly linked and I may be stretching it a bit saying it is linked at all – depends on what type of anemia.

          A1298C limits nitric oxide production and this is key to arterial relaxation. Low arterial relaxation = hypertension.

          Stress is also a cause of hypertension.

          C677T is definitely related to depression. If you are taking only folic acid – I would rather you take methylfolate. These two nutrients are vastly different.

          Your other daughters need to get tested for MTHFR because they could be carrying both. Your husband has the A1298C mutation and also may have a C677T mutation.

          • Teresa December 26, 2011 at 11:25 pm #

            Dr. Ben,

            Thanks for the reply. I can tell you are passionate about your work and I am glad.

            Our pediatrician, who diagnosed my daughter with MTHFR at age 12, gave me very little information and she wanted her to take folic acid. (She meant well I am sure- but was not informed). Now I understand why that recommendation was not helpful. She needs methlylfolate. She has pernicious anemia and iron deficancy anemia. She is currently taking injectable B12. Is sublingual or injectable better?
            Her “idiopathic intercranial cerebro-spinal fluid hypertension” is treated with diamox and topamax; and depression is treated with pristiq and remeron.

            My daughter has suffered for many years with many other ailments too, including migraines, chronic fatigue, Epstein Barr virus, and Hashimoto’s thyroiditis antibody positive, and she may also have a gluten intolerance. I hope we are getting to the root of it here. It has been a puzzle and a long journey, and I am beginning to suspect MTHFR may be the common denominator.

            I am taking the rest of my girls for testing ASAP, and then I hope to let you know how it works out. I have also started a dialogue with my siblings on the idea of getting tested.


          • Dr Ben December 28, 2011 at 8:47 am #

            Hi Teresa –

            Which mutation does your daughter have? MTHFR what?

            Injectable B12 can be worthless if it is cyanocobalamin and having preservatives – actually harmful in my book.

            If the infectable B12 is hydroxycobalamin or methylcobalamin and presevative-free – that is great.

            Only issue is it hurts and is likely more expensive than a sublingual B12.

            Talk with her doctor about switching to a sublingual methylcobalamin and sublingual methylfolate.

            Eliminate all gluten from her diet – starting with wheat and then work out from there. Gluten is directly tied to Hashimoto’s Thyroiditis – along with low vitamin D, low selenium, leaky gut syndrome and low essential fatty acids to name a few.

            There is no puzzle if one starts in the right place and works outward from there – GUT and MTHFR.

            If she is not doing well with her iron supplement (constipation, stomach pain, iron deficiency not going away) – consider Optimal Iron Plus Cofactors. I designed this formula for my wife who could not handle any iron supplements and her iron levels were not going up. She tolerates this one well and her energy is significantly better. Talk with her pediatrician about what dose she needs to take.

            There are many other things your daughter needs to be taking on a daily basis:
            – krill oil
            – fish oil
            – probiotic
            – NAC or liver support
            – MTHFR support
            – children’s multi
            – vitamin D3

            Good luck with getting your siblings tested –

            Here if you need me.

            I am reducing the amount of consult time available as it takes away from my research and writing. I want to help as many as possible and while consults are very useful for those who obtain them, I want to provide information for those who cannot – and that takes time as well.

  26. Heidi Till December 23, 2011 at 5:57 am #

    Sorry had to start a new thread, you had wanted to know what all symptoms I currently have and if they are related to my MTHFR or not. It’s hard to figure out where to start?
    -Insomnia (clinically diagnosed with mild-moderate insomnia) is my biggest I guess.
    -Migraines that are sporadic I’ll get them several times a week for several months then get a break for about 3 months before they start again.
    -Heart issues that come and go, feels like I get bursts of adrenaline and almost feels like a mild panic attack along with passing out spells when this happens. A heart test didn’t reveal anything bc as my former dr said it’s a hit/miss type of test since my heart doesn’t always act up.
    -Have suffered from severe depression on and off.
    -Kidney infections galore, dr’s have said they’ve never seen kidneys like mine that are so “lobulated” which i found out is from my kidneys not fully forming but have fully functioning blood flow.
    -Huge ovarian cysts.
    -5 miscarriages all one after the other. First 3 never developed a heart, last 2 developed a heart and measured on time with weekly ultrasounds.
    -VERY heavy menstrual periods which birth control does not help (like it’s supposed to)
    -Anemia that oddly is on and off again whether I take iron or not.
    -Anesthesia they use during a D&C doesn’t work on me completely it just makes it so I can’t respond even tho I feel everything they are doing. I believe the only one that worked was the one they did in the hospital bc I had placenta abrupta (spelling?) with my second m/c.
    -Medication doesn’t work on me very long or quits working after taking it even for a short period of time.

    -Pretty sure this is it or at least everything I can think of off the top of my head, expecting to get my medical records soon and can give more info if I missed something.

    • Dr Ben December 24, 2011 at 7:52 am #

      Hi Heidi –

      Yes – most of your symptoms – if not all – are related to the MTHFR mutation that you have.

      You also likely have a metabolic upregulation of your liver doetox pathway which processes medications faster.

      It is not hard to figure where to start if you are a doctor ;) I have a system that works well and it begins with hearing your story, then evaluating lifestyle, diet, stress levels, digestion, all symptoms and then we move in to address how to improve all of those first.

      • Heidi till December 24, 2011 at 4:21 pm #

        Thank you. Think you’re the first to look at all my symptoms as a whole. Will look at scheduling a consult after the new year when things aren’t so crazy due to the holidays.

        • Heidi Till December 26, 2011 at 2:37 am #

          I received my medical records today and on my heart test the average beat was at 76 (basically normal the lowest was at 46) however even just sitting still/laying down (because i had zero energy during the time i had the monitor on) my heart rate jumped up to 146 and i DID have an arrythmia (spelling?) however it was only once or twice yet my dr lied to me and said nothing showed on the test. now i’m upset, what else was i lied about by my dr? i’m unsure how to read or even understand some of these lab test results but it looks like something showed up on my Factor V test but overall as a whole it was negative, slightly confused? are these things we can go over on a consult? i feel lied to and brushed off as overreacting by my former dr.

          • Dr Ben December 28, 2011 at 8:25 am #

            Heidi –

            Yes – some of these we can go over in a consult.

            Doctors sometimes think it is best to not give the whole story to their patients because it will take a lot of explaining and time. Sometimes they don’t say anything because they don’t think it as serious at all and if they tell you – you may and that added stress may make whatever symptoms you have – worse.

            That said – I do tell my clients everything and I did tell my patients everything as well – hard to hear or not. Patients either loved me or hated me for this but I was certainly known as the doc who got right to the point and went for results in the first visit.

    • Lana January 6, 2012 at 7:25 pm #

      Heidi, what is your Progesterone level? seems like its low.

      • Heidi Till January 11, 2012 at 5:42 am #

        as far as i know all my levels are normal and have been normal which is why my dr was so perplexed. i was tested for numerous things both during pregnancy and again after my pregnancy hormones were gone. it’s confusing and beyond frustrating. bc i am an A- blood type we had thought i had built antibodies but i haven’t.

  27. lucy barnes December 23, 2011 at 6:33 pm #

    Dear Dr Ben,
    I was recently diagnosed with 1298c single mutation, and my doctor put me on Metanx daily, and a pre-natal vitamin, and says I should be on Lovenox when I get pregnant, as I am TTC. Another doctor now says he would prefer me to be on Deplin and NeevoDHA instead. At the beginning of January I would love to do a consult, (saving up for it!) but could you give me your thoughts now about whether to switch meds?

    • Dr Ben December 24, 2011 at 7:47 am #

      Lucy –

      I do not like Deplin personally – especially for those with A1298C mutations. Deplin is very high methylfolate and excessive methylfolate may lead to excess methylation which may cause issues and definitely may cause symptoms in you – such as irritability, leg pain, nausea, depression. I have seen this many times where those with MTHFR take too much methylfolate get these symptoms and believe me, as a physician, you learn from experience when you see people getting worse from something that is supposed to be making them better.

      Of all the pharmaceutical blends containing methylfolate, Metanx is the best in my opinion. It is balanced, contains good amounts of nutrients and is not excessive in the quantity of these nutrients.

      Just because something is good doesn’t mean that taking more of it makes it even better. Ever eat too much ice cream?? Feel like crap right? Ever drink too much water? You get my point.

      NeevoDHA contains methylfolate and is ok but it is not comprehensive in my opinion for a prenatal. I’d rather see women take a more comprehensive prenatal with methylfolate. Thorne makes a pretty good one – it is Thorne Basic Prenatal.

      I am glad your doctor is being proactive – many totally disregard the seriousness of the mutation.

      There are other nutrients to consider beyond these but these are a good start in my opinion.

      A consult would be good – we can get a lot done in 45 minutes.

      Merry Christmas to you and Happy Holidays :)

  28. michelle koscher December 26, 2011 at 6:00 pm #

    hi dr. ben I tested positive for one copy of the c677t mutation and one copy of the A1298c mutation The interpretation is copmpound heterozygous for the mutations. my doctor wants me to take cardio b 2 capsules daily . what do you suggest? I also have 2 children my son is 14 and diagnosed with tourettes syndrome and takes no meds for it . should I test my kids for the mthfr mutation and could this mutation have something to do with his tourettes thanks michelle k.

    • Dr Ben December 28, 2011 at 8:57 am #

      Hi Michelle –

      Please do test your children – absolutely may have a bearing on the Tourette’s syndrome. It is just a syndrome anyhow meaning that the cause is unknown and there are many causative factors. MTHFR may be one of them.

      If you want to wait until end of January – I recommend it. I have been working with a genetic’s lab for the last few months and we have developed a very extensive gene mutation panel that targets many mutations that are related to MTHFR in terms of function or interaction.

      I looked up Cardio B. In my opinion, I do not like it. Why? Because it contains standard folic acid. You should only take methylfolate. Talk with your doctor about switching to something that has methylfolate and methylcobalamin in it – along with TMG and active B6 (not the inactive form that is found in Cardio B). Added riboflavin is also needed as it is a cofactor in the MTHFR enzyme. Have your doctor look at HomocysteX and see what they say.

      You should also be taking a probiotic, liver support, fish oil, krill oil, multivitamin and vitamin D3 on a daily basis.

  29. Claire December 30, 2011 at 7:11 pm #


    I am currently trying to conceive using a private sperm donor. He is heterozygous and I have mutation MTHFR C677T.
    I am have had a few very early pregnancy losses and we’ve been trying for 18 months. My left fallopian tube is partially blocked but there are no other known issues.

    Could it be that my donor are I are incompatibable and not a great match for a potential childs health anyway?

    Apologies if I have omitted any information, I have only just received the results and this is very new to me.

    Thank you.

  30. Kim Townsend December 31, 2011 at 3:37 pm #

    I was recently diagnosed compound heterozygous after 6 miscarriages. I have a healthy 3 yr. old…..feeling super lucky that she’s healthy after reading about my “condition”. My question is: what is my course of treatment? I have discussed with a high-risk OB the hoops I’ll have to jump through just to have another baby…but no info on what I need to do except 81mg of aspirin daily…..can you help? It seems that I have both mutations so is it serious?

  31. Roz January 3, 2012 at 1:36 am #

    My 38 year old daughter is positive for MTHFR heterozygous state? What does this mean? She has severe headaches, seizures, psoriatic arthritis, Raynaud’s, etc… Could any of these be related to th MTHFR? Please advise. Many thanks.

    • Dr Ben January 3, 2012 at 7:52 am #

      Hi Roz –

      Heterozygous means she has one copy of the gene mutation – which one though? 677 or 1298? From the sounds of it, she could have either one but more likely A1298C is my guess. These may be partially related to MTHFR – yes.

      • Roz January 3, 2012 at 3:56 pm #

        Dr. Ben,
        Our daughter has heterozygote MTHFR C677T cogaulopathy condition. Can this be related to the severe headaches, seizures, psoriatic arthritis, etc??? Her headaches, dizziness are getting worse.Thank you for your help.

  32. toni January 3, 2012 at 3:18 am #

    This past year I have had 3 miscarriages in a row. The last one came back chromosomal due to Trisomy 15. The first two came back inconclusive. Genetic testing was done on both me and my husband which came back fine. Back in July after my 2nd mc, my doctor did some testing including testing for MTHFR. After this past mc, I decided to go to a RE specialist to cover my basis before we start trying again. I just got back from my primary ob to pick up copies of the bloodwork they did on me back in July and for the MTHFR is says as follows:

    “Two mutations (C677T and A1298C) identified. This patient’s sample was analyzed for the MTHFR mutations C677T and A1298C. One copy of the C677T mutations and one copy of the A1298C mutation were identified. Population data suggest these two mutations are not present on the same chromosome, although rare exceptions bave been reported.”

    Does this mean I am compound heterozygous for MTHFR??? My doctor did not mention this to me back in July so I am unsure if it was “missed” or if it clearly is nothing since the mutations are not on the same chromosome?

    Thank you for your help!!!!

    • Dr Ben January 3, 2012 at 7:05 am #

      Toni –

      This means you are compound heterozygous which typically means you received one copy of each mutation from your parents. If they are still alive, I recommend testing them and your siblings.

      This is a definite contributor to your miscarriages – it may not be the only contributor but it is certainly a major one.

      It must be addressed.

  33. TJKM January 4, 2012 at 3:36 pm #


    My mother and brother were just diagnosed with a double 677 and 1298 mutation. In reading about it I am fairly positive that I and one of my children (at least) have the same. I am going to get tested, but am concerned about my 15 month old who has already had all his vaccinations, or relevant ones for the age he is at. I can see a direct correlation after he has the vaccines to stomach issues, restless sleep, fussiness, and just general discomfort. What can I do to help him detox? I’m nervous about doses and things as he is so young. Thanks.


  34. Dana Rinauro January 4, 2012 at 3:51 pm #

    Dr. Ben,

    I am thrilled to have found your website, facebook page and twitter feed! I was diagnosed in March 2011 with Chronic Fatigue Syndrome after 7 years of being ill with no diagnosis other than misdiagnosed depression and being told to exercise more and manage stress better. In November of 2011, I began getting care from Dr. Paul Anderson in Seattle, who also hails from Bastyr from my understanding. The first thing that he tested me for was MTHFR mutations and we discovered that I am hetero for the C677T mutation. I am now doing research on this so that I can take all of the steps necessary to begin feeling better. I am positive that Dr. Anderson will order any tests that I need to have done from Quest and my insurance will cover them, so I would like to drill down on this some more. I can not find in all of my labs over the last couple of years that I have ever had my homocysteine levels checked. I have also recently had my excretory neurotransmitter levels checked through Neurogistics and my epinephrine levels continue to be chronically low. This last time it was so low that I did not even have a measurable amount. That practitioner also picked up on the likely MTHFR mutation as I am unable to convert norepi to epi. Dr. Anderson has asked me to take a sublingual B12 (10mg methylcobalamin) and folinic acid (1600 mcg) supplement in the am and my Neurogistics practitioner has asked me to take a 5-MTHFR (1000 mcg 2x/day) supplement. Right now I am taking the 5-MTHFR supplement along with a separate B complex supplement (75 mg b1, 75 mg b2, 50 mg niacin, 85 mg b6, 800 mcg folic acid, 500 mcg cyanocobalamin, 50 mg pantothenic acid, 100 mg choline bitartrate). I also take 4000 mg daily of Vit C, but after reading your latest post on Vit C and methylcobalamin will be moving when I take that one. What further tests and/or supplements would be helpful? Or should I switch to the sublingual supplement recommended by Dr. Anderson? Any advice you have would be much appreciated. Thanks for everything you do here. I know that so many of us with these unexplainable syndromes and other health conditions are relieved to find out what may be at the root of them.

    • Dr Ben January 5, 2012 at 6:39 am #

      Hi Dana –

      You’re in great hands with Dr Paul Anderson. He is brilliant and a great guy.

      Given that you are hetero for the C677T mutation, there must be something else awry that is causing your issues.

      Don’t get me wrong – the MTHFR single mutation is definitely causing some issues but I believe there are other potential mutations or blockages (heavy metals??) that need to be determined.

      How do you respond to tyrosine? That is a precursor to Dopamine and Norepinephrine. Norepinephrine requires methylation in order to convert to epinephrine.

      MTHFR C677T does cause deficiency in methylation but so do CBS mutations and COMT upregulations.

      How do you do with TMG?

      I’d stop taking cyanocobalamin and switch to hydroxycobalamin or methylcobalamin. That B complex needs to go. Consider switching to B Complex Plus by Seeking Health. Talk it over with Dr Anderson. This B complex is superior to yours – significantly so.

      If Dr Anderson asked you to take the 10 mg of methylcobalamin – I’d proceed with that. I am unsure why he is asking you to take folinic acid when you have difficulty converting folic acid to methylfolate. Please ask him why. I personally would rather see you taking methylfolate but he may have a reason.

      I know folinic acid leads to creating purines…but?

      Epinephrine is also made in the adrenal gland. How are your adrenals? If weak, they must be nourished. Adrenal fatigue is all too common.

      If you drink coffee – (don’t kill me) – I’d like you to cut back and then eventually get off. It acts like strong hands wringing out a sponge. The strong hands = caffeine and the sponge = adrenal. Caffeine is very depleting.

      HIGHLY consider taking 2 capsules of Pantothenic Acid in the AM and 2 in the afternoon. I think you may be pleasantly surprised from the effect of this simple nutrient.

      I am working with a genetic lab here in Bothell on a comprehensive gene mutation panel and it will be done here end of January 2012 – soon. Please stay close by as I will announce it when it is available. It will be an incredibly useful tool for physicians and individuals as it will truly identify many potential defects which are near to the MTHFR enzyme.

      In terms of testing – I’d like to see you tested for Neopterin/Biopterin levels – Metametrix tests for it. I have a feeling you may be low in biopterin and potentially elevated in neopterin. If so – these need to change.

      Keep me posted and say ‘Hey’ to Dr Anderson for me. He likely may not remember me as he and I never were on a clinic shift together – unfortunately.

      • Dana January 6, 2012 at 3:55 pm #

        Hi Dr. Ben,

        Thanks so much for the information. I wasn’t very clear in my note to you about what I am actually taking. Currently I am taking that B Complex, which I am replacing with your recommendation, and 5-methyltetrahydrofolate (1000 mcg 2x/day) from Neurogistics who completed my neurotransmitter testing. I am NOT taking the methylcobalamin/folinic acid supplement that Dr. Anderson gave to me due to the research that I had done on this mutation and my inability to convert folinic acid to active folate. I am seeing him in 2 weeks and I will talk to him about this. I also recently started taking another Neurogistics supplement that contains dl-phenylalanine and tyrosine and I am doing fine on that. I don’t think that I have ever tried TMG. I also ordered the pantothenic acid that you recommended. Would you recommend trying the HomocysteX in lieu of what I’m doing now. With all of the other supplements that I am taking for the CFS I am getting a little supplement fatigued, but I still keeping plugging along. My concern is that I’m taking a lot of supplements and not seeing the kind of improvement that I would like to see.

        I’m excited for the new gene mutation panel that you are working on and will be keeping my eyes open for that. I will also talk to Dr. Anderson about the Metametrix test that you recommended as that sounds interesting. I haven’t read much about Neopterin and Bioperin yet, but will be doing that soon.

        I do drink coffee (how did you know??) and I know that it is horrific on the adrenals especially when they’re tired. I will work on cutting that down and out in the next few weeks. I am shedding a little tear about that, but I know that it must be done.

        Once again, thank you so much for taking so much time to answer all of our questions. If the others are like me, we have spent years and thousands of dollars trying to find answers only to be dismissed much of the time. My path to Dr. Anderson and you has been a long and winding one, but I believe that I am now headed in the right direction. I will definitely tell Dr. Anderson you said hello when I see him later this month.

        • Dr Ben January 6, 2012 at 7:16 pm #

          Dana –

          I understand the frustration of taking many supplements and not improving.

          When it comes to this, sometimes it is best to completely reset and re-evaluate what is going on.

          Supplements can make things worse or better – depends on the situation and on one’s biochemistry.

          Evaluating diet, lifestyle and environment is critical to getting better. One can achieve a lot of improvement just from these optimizing these three things alone.

          I don’t want you to switch to HomocysteX without talking to Dr Anderson.

          I also want you to really sit down with Dr Anderson and give him what you want to achieve and by when. Tell him your frustrations with too many supplements and see if you can taper down on some – which are most critical and why.

          Then evaluate lifestyle, diet, and environment fully.

          Coffee has gotta go – glad you are on board with that. Once you balance your adrenals and blood sugar, it will be easier. I know you drink coffee because you live in Seattle and have CFS :)

          You also need to list ALL symptoms that you have – all of them – and put them into a timeline of when they started – along with reasons why you think they started.

          Then also put all hospital procedures under them, places you’ve moved (when), life stressors and so on.

          You’ll find out a lot from this.

  35. Kris January 4, 2012 at 5:31 pm #

    Hi Dr. Ben,
    After two miscarriages, my OBGYN decided to do tests. I was diagnosed with Plasmiogen Activator Inhibitor – 1 (one copy) and MTHFR C677T (one copy). I was placed on baby aspirin, folic acid, and foltix daily. I was also put on progesterone suppositories for the first 12 weeks of pregnancy. I had a great pregnancy up until my 39th week when I experience a placental abruption. Although very scary, I gave birth to a healthy baby boy via emergency c-section and everything turned out okay (Thank GOD!!). After my prenancy, my doctor told it was uneccessary to continue any of the medications I was taking. I stopped for about a year, but after trying to do research on my own, I found several people saying they would be taking meds for life. I immediatly began taking the baby asprin again and continue to do so. My question is could the placental abruption have anything to do with the PAI or MTHFR? And what other medications should I be taking daily? I have never had any clotting issues in my past, but I am having trouble finding doctors in my area that have any knowledge of these genetic disorders. I want to make sure that I am doing everything I can to protect myself from stroke, heart disease, etc. Please help! Thank you

    • Dr Ben January 5, 2012 at 6:21 am #

      Hi Kris –

      I am very pleased to hear the good news about your baby boy! ;) It is difficult at times to hear so many suffering from losses – but it is important to hear it because something needs to be done about it…

      I am not familiar with PAI but I am with MTHFR. I don’t have time at the moment to further research it but I assume it is another potential clotting disorder from the sound of it.

      Yes – placental abruption is correlated with MTHFR mutations but research is conflicting. Some research says yes it is related and others say no. I say it depends on the individual’s diet, lifestyle and presence of other mutations which may or may not be present.

      Yes – one with MTHFR needs to be taking methylfolate for life and taking other precautions depending on the individual’s situation.

      I recommend you consider taking:
      – a multivitamin with methylfolate along with additional methylfolate and methylcobalamin combined. Consider taking 3 capsules with breakfast, 3 at lunch and 2 capsules in the afternoon between 2 pm and 3 pm.

      – a pure and potent fish oil. Consider taking 2 capsules once daily with dinner of Optimal Fish Oil.

      – a sublingual methylfolate with methylcobalamin. Allow one tablet to dissolve under your tongue daily upon first waking up in the morning.

      – 2,000 IU of vitamin D3 daily taken anytime of day. One drop of Vitamin D360 provides 2,000 IU.

      – You should continue taking baby aspirin if you have history of clotting. If you manage your MTHFR well, you may not need to take baby aspirin. Those with single mutations typically do not need to take baby aspirin.

      – Please get your very lucky and special boy ;) some ProBiota Infant probiotic powder. ProBiota Infant is critical to helping him develop a healthy immune system, digestive system, reduce skin disorders and also reduces absorption of some toxins in the food/air/water/containers. Consider giving him 1/4 teaspoon in the evening after you feed him. Do daily until he turns 3 and then switch to ProBiota 12 Powder and give him 1/8th teaspoon after dinner (you should be taking this after dinner).

      These shall get you started and keep the basics going.

      Keep me posted how you do.

  36. Tara January 4, 2012 at 11:05 pm #

    Hi Dr. Ben,

    I have just been diagnosed as compound heterozygous mthfr after going through an IVF cycle that ended in a missed m/c at 12 weeks. My homocysteine levels were normal, but on the high end of normal (10.2). The frustrating thing is that I was on lovenox injections due to OHSS and high estrogen levels until about week 10 and then was told not to take them anymore. It could be a coincidence, but it correlated very well with the miscarraige.

    I’m beginning to start my second cycle and my dr. has put me on fabb tablets as well as baby asprin. Just wondering if you think that this is enough, and the right type of supplements to be taken. I’ve heard of neevo and am wondering if I should suggest that. Also, should I take a regular prenatal vitamin w/ dha as well?

    I guess my question is-what dietary supplements would you suggest for someone in my situation-both pre-conception and during pregnancy? Thanks:)

  37. Venu Achanta January 5, 2012 at 7:43 am #

    Hi Dr.Ben

    I have a 5 year old daughter who is undergoing treatment (Chemotherapy) for Acute Lymphoblastic Leukemia. She is homozygous for A1298C mutation but is wild type for C677T. She is being administered intrathecal as well as oral Methotrexate as part of her treatment. She has had terrible side effects due to Methotrexate – prolonged pancytopenia and neurotoxicity (Stroke like symptoms, hemiparesis which resolved in 24 hrs). Her thrombophilia workup was normal and she was negative for Factor V Leiden.
    My questions- 1)What impact does A1298C have on the toxicity due to Methotrexate ? Is there a way to alleviate these symptoms?
    2) Could A1298C be behind her developing Leukemia?
    3) Is she at risk of developing throbolic events (Stroke, DVT, Arterisclerosis)?If yes, what are preventive measures.
    Your help is deeply appreciated.

    • Dr Ben January 5, 2012 at 8:30 am #

      Hi Venu –

      The doctors need to reduce the amount of Methotrexate she is taking immediately – OR they need to stop it completely and switch to something else.

      Read this paper on Methotrexate and MTHFR.

      Yes – there is evidence of leukemia and MTHFR. Research is conflicting but in thinking of how cancers come to be, MTHFR is definitely a contributing factor here.

      The only way to relieve the symptoms of Methotrexate is provide methylfolate and methylcobalamin. But will the doctors allow it? The whole point of Methotrexate is to stop folic acid from progressing to the active form – a problem she already has.

      Research shows that those with A1298C MTHFR mutations still do produce methylfolate but they do not produce enough tetrahydrobiopterin. The lack of methylfolate further depletes tetrahydrobiopterin which then creates elevations of ammonia and peroxynitrite – both of which are very neurotoxic.

      They must reduce the amount of Methotrexate or switch it out.

      We can support her nerves with nutrients like phosphatidylcholine, CoQ10, krill oil, carnitine, vitamin B6, methylcobalamin – these could help her.

      Have you read The Gerson Therapy?

      If you’d like to schedule a consult – do find the information here.

      Please keep me posted.

      • Venu Achanta January 5, 2012 at 9:10 am #

        Hi Dr.Ben,

        Thanks for the prompt response. The dosage of Intrathecal Methotrexate has been reduced to half and 15mg of Hydrocortisone was also administered. The dosage of oral Methotrexate has also been reduced. To alleviate the symptoms our oncologist prescribed Leucovorin (Folinic Acid). My daughter also took Vitamin B12 intravenously (I need to check if the B12

        • Venu Achanta January 5, 2012 at 9:26 am #

          I need to check if the B12 given was methycobalamin. Is methylcobalamin and methyfolate safe in the case of Acute Leukemia treatment? Also, I forgot to mention- After the stroke like episode, she is on Cilostazol (Vasodilator), Piracetam syrup and Citicholine syrup.
          Thanks a ton.

          • Venu Achanta January 8, 2012 at 4:18 am #

            Hi Dr.Ben,

            I live in India and Methylfolate is not available here. If I need to get it from the US, is a prescription necessary or is it sold OTC? Methylcobalamin is available in India and he has taken couple of IV shots

          • Dr Ben January 8, 2012 at 6:45 am #

            Venu –

            You live in a beautiful country with great people. I was fortunate enough to spend 2 months there in 1996. It is actually your original style of medicine, Ayurveda, which may have saved my life and introduced me to a whole new world of medicine. If I had not gone to India, I likely would never have become a naturopathic physician.

            Methylfolate is OTC or prescription.

            You may obtain Sublingual Active B12 with Methylfolate here if you like. My team can ship internationally to you. If you want it quickly, I highly recommend FedEx International and NOT USPS International.

            The folinic acid is still going to provide her some relief as it is better than no folic acid at all.

            I am not an oncologist but I’ve often wondered:
            – Why give a drug which totally prevents the conversion of folic acid and then when side effects come from it – give folinic acid? Why not just stop using it and use something else?

            Seems like a pushing and pulling situation where no benefit occurs anymore.

  38. Amy January 5, 2012 at 8:28 pm #


    I tested positive for heterozygous C677T mthfr. My Dr. admits to having to consult his collegues for info, however they believe low levels need not be treated… this so? My main concerns are Alzheimers (I lost my dad to a very early onset of this and he passed away at age 65) Also there is an extensive history of strokes in my family.

    I have started taking baby asprin daily, but please advise regarding Metanx. I am desperate for advise from a Dr. that actually understands this mutation!!!

    PS both mom and sister are positive as well

    Please, Please, Please Help!

    • Dr Ben January 6, 2012 at 2:54 am #

      Hi Amy –

      Heterozygous MTHFR C677T is not that serious unless other lifestyle, dietary and mutation issues are present.

      Taking a multivitamin with methylfolate, fish oil, vitamin D3, vitamin E, NAC, probiotic and a sublingual methylcobalamin/methylfolate are some great basic recommendations to keep your methylation and MTHFR pathway functioning well.

      These suggestions may be found in the MTHFR category here.

      If you have a history of blood clotting issues/strokes, then baby aspirin may be needed. Please ask your doctor if you can find one that understands MTHFR.

      Which mutations do your mother and sister have? Same one or?

      • Amy January 6, 2012 at 6:40 pm #

        Actually, I mis-spoke, my mother and I have A12987C, and my sister C677T….so it sounds like my dad had C677T. In which case my brother may have both (he is getting tested next week)

        My homosistene level is 7.9

        The history of strokes are on my mom’s side (her sister at 38) and several others….the Alzheimers is on my dad’s side.

        My kids are 7, 5 and 2 and I will have them tested right away. (only 1 miscarrage for me but 2 for my sister) Are your recomendations above the same for young kids?

        – do I need a prescription for any of the above recomendations?
        -should I worry about too much Folate, leading to cancer as is mentioned in some of your articles?
        -what are the issues with people with this mutation not being able to rid our bodies of heavy metals?
        -also it seams that low seretonin…dopamine…etc. is related to the mutation. What do you recomend in that regard?

        Thank you for your time and commitment!

  39. Amanda January 6, 2012 at 9:31 pm #

    Hi Dr. Lynch,

    I’m hoping that you can give me your opinion. I’m 25 years old and was just diagnosed as being compound heterozygous with C677T and A1298C. 8 months ago I was also diagnosed with pernicious anemia( inability to absorb B12 naturally). I have been getting cyanocobalamin injections every 3 weeks since being diagnosed with the anemia(which I will need for life). Now with the MTHFR mutation diagnosis by the Rheumatologist she said I may not need the injections anymore if I start taking the methyl form in a liquid and that my body is probably unable to use the injections fully due to the mutation. I have an appointment with the neurologist who diagnosed the anemia this week to see what she has to say. Her nurses suggested during my last shot appointment that the methyl b12 in liquid form probably would not work for me since I’d have to absorb it and my body can’t absorb b12. So I’ll ask the neurologist about getting the methyl form in a shot instead. I just feel like I’m being ping-ponged back and forth between to specialist who are only concerned about their specific diagnoses and not thinking about how they work together and I’m just the nieve patient who just wants to feel normal again. So your input would be much appreciated. Also I’m sure you get this all the time but do you know of any doctors who know a lot about this in the midwest area? probably not.

    • Dr Ben January 7, 2012 at 10:26 am #

      Amanda –

      Pernicious anemia prevents you from taking B12 orally and absorbing it through the stomach.

      There is no reason why you cannot take it sublingually as this way you obtain the methylcobalamin directly into your blood stream. The sublingual b12 must be methylcobalamin or hydroxycobalamin and it should be combined with methylfolate as well for those with MTHFR mutations.

      Consider Sublingual Active B12 and Methylfolate and upon rising in the morning, take 1 tablet under the tongue or between teeth and cheek (dont swallow for a minute or so). After 1 week, try increasing to 2 tablets in the AM for another week. Then try 2 tablets in the AM along with 1 tablet before lunch. Keep increasing until you feel the maximum benefit – up to 6 tablets daily.

      You definitely do NOT want cyanocobalamin. That is trash.

      IM methylcobalamin is great but very expensive and…painful.

      I recommend you consider the sublingual route and then have your blood levels checked again in a few months. I highly recommend they test for methylmalonic acid (MMA) – not just cobalamin.

      You can try to find a doctor here who may know about MTHFR and pernicious anemia.

      Again – taking injections the rest of your life I do not think is necessary. Sublingual should be fine as long as it is quality and combined with methylfolate.
      Keep me posted.

      • Amanda January 13, 2012 at 8:44 am #

        Hey Dr. Ben,

        I talked to the neurologist who prescribed my b12 shots for my pernicious anemia and she said that after researching it( she admitted that she has never seen this mthfr before) she insists that because of my pernicious anemia i cannot absorb methyl b12 sublingually because it’s too large of a molecule and that the only way it would work for me is if it was injected directly into the muscle. So I should get it in injection form. What are your thoughts on this. I feel like she’s full of crap but would like your opinion.


        • Dr Ben January 13, 2012 at 10:06 am #

          Amanda –

          I don’t like disagreeing with doctors so much – since having started this website – it appears I am doing it all the time.

          I don’t mean to be disrespectful to my colleagues.

          I would like you to try taking sublingual methylcobalamin and see if your B12 levels rise.

          If they don’t – well – then she may be right. However, I strongly doubt it.

          Read this editorial writen by Alan Gaby, MD – a highly respected researcher and guru in nutritional biochemistry.

          Consider placing 1 tablet of Sublingual Active B12 with Methylfolate under your tongue first thing in the AM. Do this for a week and then try to add another tablet in 30 minutes before lunch.

          Make sure to do this one hour away from any vitamin C supplement as vitamin C destroys methylcobalamin.

          Gaby says that in Sweden, 40% of those with pernicious anemia is treated orally – not injections.

          You have to remember that medicine is a business unfortunately and some doctors like patients coming in routinely for visits or selling expensive procedures. An inexpensive supplement may do the trick – so why not give it a shot?

          If you have any worsening of symptoms, let me know. The worsening of your symptoms may be due to increased methylation.

          Which MTHFR mutation you have again? # of copies?

          • Amanda January 13, 2012 at 6:24 pm #

            Thank you for that article. I will give it to her. I think I will take the methyl b12 subligually and see how it affects my levels. and if it doesn’t work I’ll go back to the injections. My mom ordered me the liquid form of the methyl B12 because that’s what the rheumatologist prescribed. should I take that the same way as the tablet?

            My biggest symptom is fatigue. I’ve also experienced an extreme loss of appetite resulting in weight loss. All of my doctors are concerned about it but none of them have given me any advice on what to do. My primary doctor told me to drink protein shakes, the rheumatologist told me to increase my calorie intake to 1,600 per day. Neither of which has helped me gain and neither has helped my appetite. I’m 25 years old, 5’9 in height an have gone from 132 being my highest weight to 123 over the past year. I’ve always had a fast metabolism. But I’d like to crave food again.

            I’m compound heterozygous for C677T and A1298C. 1 copy of each i believe.

          • Dr Ben January 13, 2012 at 8:40 pm #

            Amanda –

            Be sure the liquid B12 is pure and in the form of methylcobalamin. If cyanocobalamin – it is garbage. Careful of preservatives.

            If pure and proper form, yes, you’ll put under your tongue for a minute and then swallow.

            I have another client who is also losing a ton of weight with MTHFR – she is homozygous C677T

            We are focusing on healing her gut first. It is not about intake of protein – it is also about ABSORBING it. You may need digestive enzymes and very easy to absorb nutrients. Consider SEACURE supplement.

            Elevated histamine levels block hunger. So you may need to evaluate your whole blood histamine levels and Absolute Basophils and lower them. Taking some niacin may help lower histamine – along with eating more frequently throughout the day in smaller amounts.

  40. Michele Ballinger January 7, 2012 at 7:19 pm #

    Hello Dr. Ben,

    I am so excited that I stumbled across your website. I have been struggling with my health for 8 years. During this time I have seen many different types of doctors and specialists. I have been “diagnosed” with:
    • Vitamin D deficiency
    • Chronic Fatigue Syndrome
    • Fibromyalgia
    • Depression
    • IBS
    • Hypothyroidism

    Throughout the years I have tried various supplements, acupuncture, massage therapy, antidepressants and many lifestyle changes.

    Recently, a new doctor tested me for MTFHR mutations:

    This patient’s sample was analyzed for the MTHFR mutations C677T and A1298C. A single copy of the A1298C mutation was identified. Results for the C677T mutation were negative.

    She also tested for EBV (results Interpretation VCA-IgM EA-IgG VCA-IgG NA-ABS)

    She was surprised that I didn’t also have the C677T mutation, as my symptoms pointed to it as well. My biggest struggle is with fatigue (absolute exhaustion, regardless of how much rest I get), with this comes brain fog. Also, I tend to always feel like I have a really bad cold (congestion) and the flu (nauseous and body aches). My doctor said that the A1298C is most likely not the cause. However, she has me trying:

    • 5-MTHFR (5 mg)
    • B12 (methylated, sublingual 5,000 mcg)
    • Intestinal Repair Complex
    • Vitamin D (5,000 UI)
    • Phosphatidylserine (200 mg)
    • ADR
    • Thyroid (synthroid and naturethroid)
    • Fish Oil
    • Probiotic
    • Gluten-Free Diet (gluten sensitivity shown in tests)

    I have only been following this for about a month. And I have heard it takes time. I am trying very hard to exercise (lightly everyday), soak in Epson salts (30 minutes every day), and regulate my sleep schedule (stopped taking Ambien, and trying to only sleep from 9:00 pm – 6:30 am).

    I have tried similar approaches in the past to no avail. But I am trying again! I just can’t live like this any more!

    My questions to are:
    • How long should I follow a routine before I should see some results?
    • What other tests should I ask my doctor to run?
    • Would you recommend that I discuss other supplements with my doctor?
    • Do you take insurance for you consultations? I have a PPO bluecross Anthem.
    • My son also suffers from severe depression (at 12), should I have him tested for MTFHR?
    I used to run marathons! I want to feel alive and healthy again! I can see from the comments on here, that a lot of others feel much worse than I do. I feel for them and their families.

    • Dr Ben January 8, 2012 at 4:01 am #

      Hi Michele –

      Your history provided me a key and critical piece of information.


      I cannot tell you how many superior athletes I have seen over the years crash hard.

      Why? Because you train past the point of no return because you want to improve so badly – and win. I used to compete intercollegiately in rowing at the University of Washington so I know the desire and drive that hardcore athletes demonstrate.

      That said – I also know how depleted you can make yourself.

      Thyroid tests:
      – T3, T4, rT3, anti-TPO, anti-TG

      Adrenal Tests:
      – 24 hr salivary cortisol

      Yeast overgrowth?
      Orthostatic hypertension exam

      Your MTHFR mutation may be playing a role albeit not as significant as you may have ‘hoped.’

      This does not mean that you do not have other mutations that are causing issues. Soon, you will be able to tell as I will have a lab test available that tests nearby gene mutations – nearby in relation to MTHFR that is. These are common in the population as well and not nearly as tested as MTHFR (which is not tested nearly enough).

      I do not take insurance. I do not approve of the way they ‘force’ doctors to practice in a certain manner and I cannot take insurance anyhow when I don’t physically see patients.

      Before you test your son for MTHFR, wait until I get this new gene mutation panel out. It will cost you only $200 or so more and it will provide so much more information – plus it should be easier on him as it is an oral swab vs blood draw.

      I should be having this new genetic test available in a couple weeks!

      I’ll announce it here so make sure you check back.

      Consider the following:
      Molybdenum: 500 mcg a day – anytime of day – with food.
      Pantothenic Acid: 2 grams twice a day – breakfast and lunch
      Coffee Enemas (yes! really…): three times a week. Use the PurEnema Coffee and the Silicone Enema Kit
      – Give up dairy

      Are you not taking a multivitamin?
      No antioxidants?
      No vitamin C?
      No B vitamins?
      No trace minerals?

      A consult would be a good idea. Yes it not inexpensive but the value is incredible. I get booked out quickly because I don’t open up my schedule as much as I used to due to my increased research and writing.

  41. Angie M. January 8, 2012 at 7:07 pm #

    Dear Dr. Ben,
    I am 25 and had suffered my third miscarriage a few months ago. I have been tested for many many things (believe me I am so sick of tests) and the only thing that showed up abnormal is an mthfr mutation. My doctor says i am heterozygous for the c677t gene abnormality. my doctor doesn’t seem to think that this alone could have caused the miscarriages. He thinks maybe I have had some terrible luck because otherwise there is nothing wrong with me and i am still young. they don’t seem to understand that being young does not mean that its much easier to endure so much loss.

    what is your opinion? Is this gene why i am miscarrying so early in the pregnancy?

    should i request some type of treatment?

    it’s so hard to understand why this keeps happening. do you think ill have a better shot at my next pregnancy with extra folic acid and blood thinners like aspirin?

  42. Vanessa January 9, 2012 at 1:25 am #

    My son is now 8 years old. In 2008 he tested positive for MTHFR mutations- C677T and A1298C. He had one copy of each. He also had lots of other tests done by an alternative medicine doctor. (heavy metals, etc.- abonormal also) We followed the recommendations for supplements for a few months but stopped. We started taking him back to his regular doctors. I am now looking back at his lab work from the alternative medication doctor and doing research and understanding more now. He is on multiple medications- intuniv, celexa, trileptal, focalin. I want to put him on the correct supplements but not sure which ones to order. The 2 main problems that concern me now are that during his sleep all his muscles in his body twitch all night long.The twitching started in June 2011) (He has had an MRI, EEG, Sleep study- Had recent T & A.) and the other huge problem is his senstivity to certain sounds at times- the “c,k,p,g” sounds, chewing gum- it will drive him crazy- (frustration,anger, sad, crying, screaming) and yet he will continue to repeat them over and over because they get stuck in his head. We have seen pediatricians, neurologist, pyschologist, psychiatrist. The SSRI drugs have made a tremendous difference- like night and day, but then its like they wear off and either quit working or have a lessened effect. They will stop the sound sensitivities for a little while then come back. Socially the SSRI’s have made a huge difference in his life positively. I have been told he is ADD/ADHD/OCD/ ODD/anxiety, possible PPD(pervasive developmental disorder, possible bilpolar). Now I am releazing that all this could be linked to MTHFR and I want to make sure he is treated correctly. I am also currently giving him a MVI, childrens nordic naturals DHA, methylcobalamin powder, and chewable folate- (will stop giving this form of folate because now realize this is not the form he needs). I was looking at Homocystex. Would this be appropriate for his age?

    • Dr Ben January 9, 2012 at 6:47 am #

      Hi Vanessa –

      Sorry to hear that your son is not doing as well as he should be.

      The good news though is he is responding to medications which means he will respond to appropriate nutrients and lifestyle/dietary changes as well. The drugs wear off because he is not making enough of the neurotransmitters himself. The drugs simply reduce the speed of breakdown of the neurotransmitters – they do not make them. He needs to make his own and until that happens, the meds will continue to work for a bit and then he’ll have to switch until eventually no medication will help.

      The MTHFR mutation is DEFINITELY related to his symptoms and he may have other mutations as well which are contributing to his situation.

      Due to the complexity of the situation – and a desire to not have your son respond well to my suggestions – I must insist that a 1 hour consult be done. I cannot simply say that HomocysteX would be good for him as it may – or it may not be – need more information. Please do schedule a 1 hour consult by calling 800-689-8221 and you may obtain the actual consult here.

      What you can do though is get him on some things right now which I know he will respond to well – and safely:
      Active CoQH: consider 2 capsules a day with food – with breakfast
      Optimal Krill Oil: consider 2 capsules a day with food – anytime of day
      ProBiota 12 probiotic: consider 1 capsule after dinner
      Chewable Optimal Multivitamin: have him chew 1 tablet after breakfast along with some water to wash it down with. The taste is pretty good. My boys like it. This mutlivitamin has methylfolate and methylcobalamin in it as well. Have him chew another one at lunch time – ideally.
      PaleoMeal DF: mix 1 scoop in some almond milk or water with frozen berries and blend it up. This is to be used during times of not being able to make him a healthy meal yet he needs to eat. This avoids him being fed ‘filler food’ like chips and otherwise unhealthy food. You can use this daily if you like but I’d rather you use real food. This is ideally used when you need to – a few times a week is great.

      To support his muscles, prepare the following in his 18 oz stainless steel water bottle (NOT plastic) and have him drink it throughout the day – not all at once:
      – filtered water
      – 1 scoop of Optimal Vitamin C Powder
      – 1 scoop of D-Ribose Powder
      – 2 capfuls of Electrolyte Concentrate

      He must completely avoid all wheat and dairy products. I know this is a tough request but it must be done. Both are very damaging foods and stimulating to the nervous system.

      Also make sure he avoids anything stimulating such as:
      – MSG
      – food coloring
      – soda
      – corn syrup

      • Brett January 13, 2012 at 11:08 pm #

        Please tell us exactly why dairy products are not healthy. I would like to read more about this.

        What is your opinion of whey isolate proteins?

        • Dr Ben January 13, 2012 at 11:44 pm #

          Brett –

          I believe dairy products are healthy if raw or come from cows that are grass-fed, hormone and antibiotic free.

          Issue is USA has butchered the food so it messes up with our biochemistry.

          I support the use of whey protein isolates. There is a lot of research on them and provide countless benefits. I should say I support the use of whey protein isolates if they come from cattle that are grass fed, hormone free and no antibiotics. Whey Slim by Seeking Health is a whey protein isolate powder that provides this purity.

          It also depends on the person and what is going on with them biochemically. Those with autism should avoid dairy as it contains casomorphins.

          These wreak havoc and trigger histamine release. Elevated histamine is a MAJOR problem in countless diseases and conditions and avoiding foods which stimulate histamine release is absolutely necessary.

  43. Cheryl January 9, 2012 at 11:20 pm #

    Dr. Ben,

    My sister has announced that she’s been diagnosed homozygous for the MTHFR A1298C strand. Her reproductive endocrinologist also told her that she had spinal bifida in utero but that it closed over before she was born. She seems to trust her RE, but I’ve read several reviews online that her doctor performs all sorts of unnecessary tests just to make more money. So I start out with a prejudice against my sister insisting that I need to be tested for MTHFR.

    My husband and I would like to start trying for another baby very soon so I called my own doctor and explained the situation. He doesn’t seem to think I need to be tested because I’ve already gotten pregnant twice with no problems (as I know MTHFR can cause miscarriage). He also said there isn’t much research on MTHFR and birth defects, and even if I did have it I would just be told to take folic acid, which I’m already taking.

    So my question is, should I insist on getting tested anyways?

    • Dr Ben January 10, 2012 at 6:31 am #

      Cheryl –

      Yes. Get tested. Why not be PROACTIVE vs REACTIVE? I don’t get some doctors. Why risk it??

      Your sister is homozygous MTHFR means you are very likely carrying a mutation or two of MTHFR. And your husband – is he carrying a MTHFR mutation? If so, he can pass one on to baby increasing risk of miscarriage. However, the risk is greatest with your genetics as your unborn child is utilizing your blood and your environment to grow. If you clot, it could prevent blood flow to the baby and cause an early termination.

      Homozygous A1298C MTHFR mutations are less likely to clot than those with C677T mutations; however, there are still issues with A1298C.

      How soon are you wanting to get pregnant?

      You should at least start getting on the right nutrients.
      – CoQ10
      – Vitamin D3
      – Probiotic
      – Multi with methylfolate and active nutrients
      – methylfolate
      – krill oil
      – epa/dha

      • Cheryl January 10, 2012 at 3:44 pm #

        The earliest we would start trying is next month. Definetly within the next 6 months. I am already taking a pre-pregnancy folic acid + multivitamin pill. But I agree with you. Taking the test can’t hurt – it can only help. I think I’ll give my doctor a call and schedule that test. Thanks for your advice Dr. Ben!

      • Cheryl January 11, 2012 at 11:27 pm #

        So I called my doctor and after pleading with him he agreed to order the test, but pretty much told me that the results will be worthless. He said even it comes back positive there is nothing he will do about it and there is no need for me to worry about spinal bifida in my unborn child. He said that my sister’s doctor must not be up-to-date on the research b/c everyone used to order the tests, but they didn’t show any correlation with miscarriages, spinal bifida, etc. I’m so confused…

        • Dr Ben January 12, 2012 at 12:36 am #

          Cheryl –

          Your doctor is wrong. Sorry.

          Research makes mistakes as there are so many variables in play.

          The goal here is to optimize the health of yourself and your child right?

          Why would we want to have spina bifida in your child or other issues?

          Decreased methylation (caused by the MTHFR mutation) leads to DNA and RNA issues which are definitely undesirable in pregnant woman because it is exactly these two things which help initiate growth and repair. You have ONE chance to make a healthy child and if anyone has MTHFR, they need to be proactive and take care of the gene’s limitation by supplementing with methylfolate at least.

          Mark my words, MTHFR is making a come back and I am working on making that happen.

          Let me know the results and a consult may be necessary depending on what they show.

  44. Stephanie January 10, 2012 at 1:19 am #

    Today I was told that I have Protein S deficiency, MTHFR (C677T & A1298C) Mutaions. I am 8 weeks pregnant and the only reason we tested for this is because I have had 2 miscarriages. While I am very glad that I found out what has been causing the miscarriages, I am confused and concernd about all of the information that I have found on the internet. My OB didn’t give me any information on this at all, just told me to look this up online. My husband and I have a few questions to ask, that we cannot seem to find the information on. Here they are

    1)Was I born with this or did it just show up?
    2)Does pregnancy put a risk on my heart?
    3)By having this mutations, how much more at risk am I for all of the complications, i.e. heart attacks, cancer, or Pre-E?

    • Dr Ben January 10, 2012 at 6:28 am #

      Hi Stephanie –

      1) You were born with it.
      2) Pregnancy doesn’t put a risk on your heart – the MTHFR mutation does.
      3) With s compound heterozygous MTHFR mutation you are more likely to have cardiovascular events – yes – however, if properly managed, your MTHFR mutation will not cause you issues.

      You need to get on Metanx immediately along with Lovenox. NOW.

      Take also:
      – 6,000 IU of vitamin D3
      – 100 mg of CoQ10
      – Krill Oil
      – EPA/DHA
      – Probiotic
      – Effective prenatal like Thorne’s Basic Prenatal or Perfect Prenatal by New Chapter.

      • Stephanie January 10, 2012 at 5:41 pm #

        My OBGYN is sending me to a specialist in a a few weeks. He has put me on baby asprin and today I am picking up a B6 Vitamin for the Protein S Deficiency. Also a prenatal that he prescribed. Thank you very much for answering my questions. I have one more:

        Should my mother, father, sister, and child be tested for this as well?

        • Dr Ben January 10, 2012 at 9:28 pm #

          Stephanie –

          Yes – your entire family needs to be tested. This MTHFR mutation affects more than 40% of the population and runs in families.

  45. Diane January 10, 2012 at 1:56 am #

    Hello, Ben

    I have a MTHFR mutation and have read with interest that it can be detected inexpensively by eating asparagus, and noting an odor. Can you explain the link?

    Many thanks

    • Dr Ben January 10, 2012 at 6:25 am #

      Hi Diane –

      Asparagus breakdown operates through a different pathway.

      This pathway is the sulfoxidation pathway and is run mainly by molybdenum and vitamin B6.

      There are supposedly some SNP’s that cause the inability to sense the smell of specific metabolite from asparagus.

      The sulfoxidation pathway is likely not functioning very well in those with MTHFR but it is not directly related.

      The asparagus urine test is not a valid way to test for MTHFR – ;)

  46. Doug Mendlik January 10, 2012 at 5:51 pm #

    Dr. Ben-

    My wife has been told she has MTHFR. We were told she is heterozygous but never given which copy. We had gone through 3 miscarriages prior to the doctors finding the genetic mutation. She has been taking folic acid and sub-Q Arixtra 7.5mg for 3 years. I am happy to say we have recently been blessed with our first child!

    My question is this. She said she is tired of giving herself shots every day. We contacted her hematologist and he said because she had 3 blood clots before her Dx of MTHFR she has to be on the anticoagulant for the rest of her life. I have done some research and have seen that MTHFR has neither been proven nor ruled out to be a primary cause of DVT. She was on the birth control patch, ORTHO EVRA ® and she was a smoker prior to all this. Once she had her first blood clot she was taken off the BCP but she continued to smoke. After her second clot she stopped smoking…..finally. I was wondering is the treatment of anticoagulation the rest of her life an acceptable treatment or is it just a “protocol” to prescribe such? We have made an appointment to see our GP next week and I wanted to bring her some medical research so that my wife no longer has to continue giving herself injections…….any information you can provide would be greatly appreciated.


    Doug and Kristi Mendlik…..and our little Miranda

    • Dr Ben January 10, 2012 at 9:33 pm #

      Hi Doug –

      I understand your concern and appreciate your forward thinking.

      Ortho Evra patch, combined with smoking, is a clot formation waiting to happen. I am glad she has stopped both.

      Having only 1 copy of MTHFR does not cause alarm with most physicians. Does she have any other clotting disorders? Tested for those?

      Have her doctor do functional clotting tests and bloodwork to see if she is still at risk for blood clots now that she has stopped smoking and using the ‘patch.’

      I recommend putting her blood clots on a timeline along with the start of smoking and with the duration of using the Ortho Evra patch.

      What are her estrogen levels also? If elevated, that causes risk.

      Also look at ‘lipoprotein little a’ – this is a very critical marker along with homocysteine and CRP-hs and sedimentation rate.

      There is research out there which shows that low blood levels of methylfolate and methionine predispose people to blood clots. I will find that study for you and post it later. I have a consult now…

      • Doug Mendlik January 11, 2012 at 2:32 am #

        Thanks Dr. Ben.

        My wife informs me that her homocysteine levels were within normal limits. She also stated her first blood clot was spontaneous but the second occurred despite Lovenox therapy. I will ask the doctor about your recommendations and we will go from there. Thank you so much for your fast response! You are very correct that not many physicians are well versed in MTHFR and finding the right treatment modalities is very difficult. My wife has been taking sub-Q anticiagulants for 5 years and it really is a “protocol” and we are really trying to find if she need to remain on them since she has been clot free for over 5 years and ha never had an abnormal lab value besides the one copy of the MTHFR gene. I cannot recall which one but her hematologist said it was doubtful it caused the blood clot but because she has had 3 clots total before the testing he said she will need to remain on the Arixtra 7.5mg for the remainder of her life. She is really looking to know if there is another treatment instead of the injections? Can she take supplements or dietary changes that might be helpful?

        Thank you again for providing such a great resource!

  47. Ali January 11, 2012 at 2:32 pm #

    I have suffered from a range of medical issues for most of my life – starting with endometriosis and adenomyosis which led to a hysterectomy in 2004 (I am now 33 years old). I was later diagnosed with interstitial cystitis, chronic pedicarditis, joint pain fatigue – finally diagnosed as fibromyalgia. I have had some lupus tests come back possitive. Yesterday I got the results from genetic testing where I was homo.. with the MTHFR genetic mutation. I am wondering if this can cuase symptoms like what I have. I was also tested for clotting and have a high level of fibrin in my blood – tested possitive for like 3 clotting tests. I also have a brother with autism and a sister with some clotting issues who has frequent miscarriages. Any info would be wonderful.

  48. Marianne and Sarah January 11, 2012 at 3:29 pm #

    One of my bestfriends and myself have fibromyalgia and lupus at the age of 21, and she’s recently been diagnosed with MTHFR and she’s worried about me and wants me to get checked, but its very overwhelming and scary, and well we both have no idea what this disease is and was hoping that someone could dumb it down for us, like as if they were explaining it to a five year old. Like I said its very overwhelming and a lot to take in, but for her to have it and have to schedule an appointment just to gets answers about it is kind of nerve wracking, so I’m hoping we can find some answers. Thanks!

    • Dr Ben January 12, 2012 at 8:25 am #

      Hi Ladies –

      Being diagnosed with MTHFR is a blessing in some ways as you know what may be the cause of many of your symptoms. The beauty of the MTHFR mutation is that you can bypass it with proper nutrients, dietary and lifestyle choices.

      Don’t be scared. Be proactive and learn all you can about it.

      Issue is many docs say it is nothing to worry about.

      I firmly disagree.

  49. Elizabeth January 11, 2012 at 8:21 pm #

    Good morning Dr. Ben,

    I have been diagnosed compound heterozygous for the mutations c677t and A1298c. I plan to start many of the suplements you recomend, however my question is about my kids. (all 3 under 10)

    Do you think it is necessary to have them tested so young? (some say no due to insurance “pre-existing conditions”) and if not, are there suplements you think they should take outside of a multi-vitamin, just in case they have neither…one …or both mutations?

    • Dr Ben January 12, 2012 at 8:20 am #

      Hi Elizabeth –

      What about testing their father? This way you know if there are additional MTHFR mutations potentially affecting them.

      Let me write an article and do a podcast on this tomorrow – I should have some time. Been so busy with consults – but I really need to be able to get this information posted.

      They will definitely need some additional help beyond a good multi with methylfolate. I’ll get to this tomorrow.

      • Elizabeth January 18, 2012 at 7:57 pm #

        Hi Dr. Ben,

        I know you are super busy, but I was wondering if you have done a podcast about this? I can’t seam to find an update, and want to make sure I’m looking in the right place..?

        To be clear, I’m wondering about how to treat my kids beyond a multi vitamin with methylfolate.

        Thank you!!

        • Dr Ben January 19, 2012 at 8:29 am #

          Elizabeth –

          You’re right. I will get going on the podcast. The location is ready for me – I simply need to get cracking. Consults take up a lot of my time – and then add on my research and preparing for lectures.

          How to treat your kids beyond a multivitamin with methylfolate is a great question. I do need to get this available…as there are basic recommendations that are safe – and critical.

  50. Milly Avendano January 12, 2012 at 5:51 pm #

    Dr. Lynch,

    Earlier in 2011 I was diagnosed with homozygous 677 because I had three miscarriages. I was prescribed Metanex but upon taking it gives me nausea. I know it is the Metanex because I stopped and once began the same continued. I now take sublingual b12 and Metafolin. I am no longer interested in getting pregnant but I do feel extremely exhausted. I am gfcf. I eat a very healthy diet and have done so all my life. I don’t eat processed foods, chicken or beer. Mostly organic fruits,veggies and wild Alaskan salmon. So my question is why do I feel exhausted? Doctor checked thyroid and it is fine, but did recommend VIt d, 5,000 units. It has increased but no change. Is there anything else she should check? My sons father also has one of ech 677 and 1298 so I assume my son is a carrier as well. We are checking him this weekend. He was diagnosed with salycilate sensitivity and has been gfcf for one year. We also both take custom probiotics 11 strain along with Vit c, with acerola, biflavonoids, and hesperdin. And take fish oil daily and cook with coconut oil, and sprinkle some flax meal, chia seeds on meals.

    Which of your supplements do you recommend? For my 3 year old? I thank you in advance.

    • Dr Ben January 12, 2012 at 10:29 pm #

      Milly –

      You likely have other issues going on that are not being addressed.

      Thyroid, adrenal, digestive, lack of exercise, poor absorption of nutrients, additional mutations, and so on.

      Doctors don’t check the thyroid very well typically.

      Did they check
      – TSH
      – free T3
      – free T4
      – Reverse T3
      – anti-TPO
      – anti-TG

      If not – they should.

      If your son was diagnosed with salicylate sensitivity, he may have a CBS mutation – and you may as well. This could explain why you don’t feel good with Metanx. Vitamin B6 speeds up the CBS mutation and increases ammonia levels.

      Your son should take Molybdenum to help process the salicylates. Consider giving him (and yourself) Molybdenum daily for a few weeks.

      For him, consider 3 drops a day in some juice.
      For you, consider 7 drops a day in some juice or water.

      He should also take 1/2 tablet of the Chewable Optimal Multivitamin – with food.

      I cannot suggest anything else without a consult – I don’t like guessing. It can make you or your son worse if I do. The above suggestions I am confident in. I recommend one hour initially so we can get through history and then proceed to make some recommendations. Otherwise, we do not have enough time to get to recommendations.

      • Milly A January 13, 2012 at 2:02 am #

        Great! Before I schedule a consult with you I guess I should get all these test done? I will schedule it with my doctor hoping she doesn’t discount what I am asking her to do. She did check thyroid and said all is well but nothing exact. I did send her your website info in hopes that she will be open minded.

        I never had any issues prior to this, so I assume pregnancy kicked of the mutation?

        And I ment beef not beer in my previous comment. My son has not been vaxed as I read in your blog that there is a positive correlation between these mutations and

        autism. Any other test that you can think of? Thanks again!

  51. Sarah January 13, 2012 at 4:38 pm #

    Dr. Ben,

    I have the single MTHFR mutation (C677T) and I take a Super B-Complex vitamin, but after reading some other comments I wonder if I need to be taking something else? Should I be taking 5-MTHF also? Or one or the other?

  52. C Kenney January 13, 2012 at 11:05 pm #

    I would appreciate any info about heterozygous C766t and it’s involvement / relationship with possible heart disease, particularly stroke. I may have just recently suffered a cryptogenic stroke which we are in the process of evaluating now with a neurologist thru various tests MRI, CT Angiogram, EEG, EMG, Nerve conduction study, etc. to learn about any possible causes for the ” possible” stroke I had. My left arm and hand and left leg and foot feel tingly, and there has not been any obvious reason so far. I am 37 yrs old, have hypothyroidism, and also a discovered patent fore amen ovale. coincidentally, I suffered 6 miscarriages, but have 2 healthy children now (8 total pregnancies in 6 yrs). Dr. Stephenson in Chicago was my specialist and helped me with low progesterone levels as well. I had issues, but was able to overcome them and gave birth to a girl in 2007 and a boy in 2010.

    • Dr Ben January 13, 2012 at 11:52 pm #

      C –

      Heterozygous C677T MTHFR mutation has some bearing on heart disease – definitely – but I don’t think it would cause your stroke.

      I think your stroke came from your patent foramen ovale. That needs to get fixed. The turbulence created by the patent foramen ovale is making you susceptible to blood clot formations which then leave the heart and go into your brain through the carotid artery.

      Until the patent foramen ovale is fixed, you should be put on baby aspirin or something to reduce blood clot risk.

      To support my comments here:
      “The prevalence of patent foramen ovale in patients presenting with non-haemorrhagic stroke or transient ischaemic attacks under the age of 40 years was determined by contrast echocardiography. Studies were performed at rest and with a Valsalva manoeuvre in 40 stroke patients and in an age and sex matched control group. Right-to-left shunting was found in 20 (50%) of the stroke patients and 6 (15%) of the controls (p <0·001). Paradoxical embolism through a patent foramen ovale may be an under-recognised cause of stroke in young adults." Source: Lancet

      I think the doctors should realize this – it is not complicated, and in my opinion, should have been obvious as the cause of your stroke.

      I am glad they found the patent foramen ovale – kudos to the doc who found that.

  53. Becky Barber January 14, 2012 at 7:44 pm #

    I recently found out I’m homozygous for A1298C. I’ve just discovered your site and have not had a chance to see any podcast but have a question. My ND put me on Thone’s Methy-Guard twice daily. Is this appropriate in your opinion? I give him kudos for even testing for it but then he didn’t really have anything to offer other than looking at my homocysteine level (which was normal). I’m excited to know you are there and look forward to exploring this topic in more depth.

  54. Charlotte Brown January 14, 2012 at 7:52 pm #

    Dr. Ben,

    My question is that can my Homozygous C776T be playing a part in my chronic anemia and nerve pain (legs, sacrum region/tailbone, sciatica, plus more). How much are your consultations? Do your blood checks look for more than just the two most commonly tested MTHFR factors?

    I have congenital spina bifida occulta too.


  55. Sarah January 15, 2012 at 4:45 pm #

    Hello Dr. Ben,
    I have MTHFR C677T and I take a super-b complex. Should I take Homocydtex instead? I also have Factor V Leiden and I do not like taking my 81mg baby aspirin. Do you recommend me taking White Williow Bark instead?

  56. Sarah January 16, 2012 at 10:01 pm #

    My father recently had blood clots and after a great deal of testing to find out the source, he was diagnosed with MTHFR C677T mutation. I made an appointment with my PCP on Friday to discuss getting tested myself. Is there anything I should be telling my Dr to make sure he will order the tests or is requesting the tests based on my father going to be enough?
    Also, about a year ago I ended up in the hospital for 10 days…started with a severe migraine, loss of vision in one eye (the eye was later diagnosed as iritis-but they never figured out what caused that)…fever that wouldn’t come down and after a couple days in the hospital I was having problems with renal functioning. I was referred to multiple specialists, neurologists, autoimmune, etc…but never diagnosed. I have been taking Topamax daily since as migraine prevention but still wonder what that was all about. Any of that sound familiar as something related to the mutation? Just a shot in the dark!
    Thanks for this website…such a great resource…

  57. Debbie January 16, 2012 at 11:16 pm #

    Hi im wondering if you can enlighten me, I have been diagnosed with Mthfr Homozygous for the C allele at position 1298
    Ive seen lots of answers concerning the Mthfr but not particularly as its wrote down for me, so not sure of the differences, can you please explain as much as you can , what this means,implications and so forth, Where i got it ? What do i do about it, as you can tell im a bit lost atm
    thank you

  58. Beth January 17, 2012 at 9:06 pm #

    Dear Dr. Ben,
    Great Site ! My doctor started testing all pts for MTHFR a year ago. I tested positive for both the C677 and the A1298. She had previously had me taking Metagenics Folapro L-5MTHF. She now is recommending Deplin. What are your thoughts on Deplin?
    I am 52 yrs old, peri menopausal ( do not take hormones, yet?). I am wheat-gluten free, Limit dairy to eggs and yogurt, sugar free ( except my birthday and christmas). She does do a nutrient/vitamin blood analysis yearly and a Berkley Heart blood test yearly. My homocysteine levels have gone down a bit to 10.7,, CRP – 1.5.
    I am currently taking:
    3 Ulimate Omega fish oil
    3,000mg Vit C
    100mg COQ10, 5,000 Vit D – Levels are at 42 started at 9 in 2009
    500mg magnesium
    500 mg prorite ( proline/lysine)
    2 Fola pro L5 MTHF
    Cal Mag D
    Walk every day 30-45 min
    My Estrogene levels are at 32 now- Having night sewats, anxiety, sleeplessness
    My M.D. suggested Vivelle dot .25 patch, not sure about if I will or not.
    I really like your site here, very informative.
    My question to you is really about the Deplin vs L5 MTHF ( Fola Pro)/ And any other suggestions you may have. I want a healthy cardio system and don’t want to worry about blood clots etc..
    I luckily had a healthy pregnancy , daughter is 27 now. She just got tested for MTHFR, no results yet. My husband, her Dad is positive for the C677T.
    Any info would be much appreciated.
    Thank YOu,

    • Beth January 19, 2012 at 3:09 pm #

      Dr. Ben,
      What are your thoughts on Deplin vs FolaPro? Thank you for any reccomendations regarding this?

      • Dr Ben January 20, 2012 at 9:35 am #

        Beth –

        I am not a Deplin fan unless someone is insanely depressed and not responding to lower doses of methylfolate and methylcobalamin.

        This question is very patient-specific and depends on the individual’s biochemistry.

        It is impossible to say which one is best for you.

        However, I believe it is best to start LOW and work up in dosages rather than just slam your body with 7.5 mg or 15 mg of methylfolate. That is hardcore.

        FolaPro, I find, is not that hot of a choice because it is a tablet with just 800 mcg of methylfolate. This is great for those who do not respond well to higher amounts of methylfolate. However, I like many to take methylcobalamin along with their methylfolate. Without methylcobalamin, methylfolate cannot do anything!

        Take a look at Active B12 with Methylfolate. This provides 800 mcg of methylfolate (as Metafolin) along with 1 mg of methylcobalamin in sublingual form for enhanced absorption of both. Make sure to take this under your tongue on away from food and away from vitamin C.

        Start with 1/2 tablet if you know you are sensitive to supplementation and work up to the amount you find works well for you. It is best to split the dosages throughout the day. Example, taking 1 tablet every 2 hours is better than taking 3 at the same time – much much better.

  59. Heidi January 18, 2012 at 7:38 am #


    I am 44 and was recently diagnosed with one copy of c677t and A1298c. I am wondering what you might recommend when it comes to diet and supplements?

    I was also diagnosed with a deficiency of protein C(PC) are these related in any way?

    Thank you!

    Kind Regards,

  60. Lindsey January 18, 2012 at 3:54 pm #

    Dr. Ben,

    Thanks to a thorough OB doctor, I found out I had MTHFR after a miscarriage and and trip to the ER at 9.5 weeks pregnant with numbness on the right side of my body. Er doctor thought I was have TIAs but the chest x-ray and CT scan results were inconclusive. My OB put me on baby aspirin as a precaution, and scheduled a thrombophilia panel and echo with my cardiologist. Echo showed I have a patent foramen ovale and thrombophilia panel tested positive for compound heterozygous MTHFR. I was instantly put on Folgard (one pill twice a day) and baby aspirin and continue it today.

    I have recently been having issues with my endometrium being super thin (1 mm) and my OB has put me on rounds of estrogen supplements for 10 days at a time during a certain time of my cycle for 3 months at a time. I am essentially taking 10 pills a month. It fixes the issue for a few months then the lining thins out again.

    We plan on trying to conceive again starting in June, and wanted to do my research with MTHFR to make sure I was doing everything possible I could to ensure I was getting everything I need.

    My questions for you are:

    I know Folgard isn’t what is recommended because it contains Folic Acid, not Folate. What are some other options? What is the technical name for what I need to look for in the meds I take for hte MTHFR?

    Is there a prenatal vitamin you recommend that contains Folate as well? What about the Neevo with DHA? Right now I just take a general one that I purchase from Walgreens.

    Also, I know the thought of taking estrogen for someone with MTHFR is not good. My hypothesis about my endometrium is that it wasn’t an issue before having my son, because I was always on birth control, which regulated my lining. However, after being diagnosed with MTHFR and not being about to be on birth control, it is now an issue. Any guesses as to why I am having this issue now? Any alternatives to thickening my lining without having to take estrogen? Obviously if my lining isn’t thick, I won’t be able to get pregnant for the second time.

    Thanks for your help!

  61. Abigail January 18, 2012 at 8:20 pm #

    My 6yr old step daugher is c677t a1298c mthfr hetro….what do we need to be doing she is on a folate vitamin… her doc is in a study for kids with ADD ADHA….for pending FDA aproval…anything else we need to do ?…where does the mutation come from…mother father or both…i have a daughter with her dad and didnt know if i need to test my daughter…i do not carry that mutaion only one i have is cystic fybrous gene…thank you Abby

    • Dr Ben January 19, 2012 at 8:28 am #

      Hi Abby –

      The MTHFR mutation is coming from either parent as it is not sex linked. Given her compound heterozygous MTHFR mutation, she is likely having one MTHFR mutation coming from each parent.

      She needs to be taking methylfolate, yes. I highly recommend getting her started on a complete multivitamin which is chewable along with a multistrain probiotic and a sublingual methylcobalamin with methylfolate.

      There are likely other recommendations but I’d need more information and a scheduled consult in order to provide more detail. The recommendations above are safe and highly recommended as a starting point.

      You do NOT want to provide her with any standard folate as she cannot process it very well due to the MTHFR mutation.

  62. Carol January 18, 2012 at 9:58 pm #

    It is my hypothesis that there is an association between methylation disorders and the non secretor blood status. The wear and tear on mucosal mitochondria over time leads to accumulation, blockages and the like. Perhaps the 20 percent without blood antigen protection is the very same group with methylation problems, in which case, could be determined easier than a dna test. With this information, prevention could be part of methylation treatment from birth, as it would be deemed a mucosal disorder. Any thoughts on the matter?

    • Dr Ben January 19, 2012 at 8:23 am #

      Carol –

      I do not follow you entirely here. ‘Non secretor blood status?’

      I see identifying methylation defects in women and men prior to them trying to conceive is the absolute best protection for their unborn child. So – I see methylation as an integral aspect for future parents – even before birth!

      You’ve read my mind here nearly.

      Given my passion of epigenetics and prenatal care, methylation is a critical component and I’m very pleased to have the knowledge to optimize the health of our future generations.

      This is going to be my first year lecturing worldwide on this exact topic.

  63. Elizabeth January 18, 2012 at 10:27 pm #

    Hi Dr Ben

    I have looked high and low for a Dr in Colorado to help me. I am compound heterozygous MTHFR. My symptoms are fibromyalgia, enemia, depression, muscle/joint pain, cfs, memory loss, brain fog, migraines……………However my homocystine level is 7.9 so no Dr. seems to think I need treatment. (and probably think I am a hypochondriac).

    I have started taking L-arginie, Vit C, Krill oil, magnesium, 5 HTP, Probiotics, milk thistle, fish oil, and Vit D3.

    I would like to order Homocystex, but I need to make sure that is a good idea with “normal ” homocystine levels.

    Thanks in advance for your time, I know it is valuable!!

    • Beth January 18, 2012 at 10:39 pm #

      Hi Elizabeth!, I also live in Colorado. I see a great Doc in Denver. She is the one who initally tested me for MTHFR. She tests ALL her patients. I have post from January 17th, “Beth” we are both Elizabeth actually. Her name is Monique Martin, Global Medicine. You can google her for more info. Hope this might help you.

      • Elizabeth January 19, 2012 at 12:25 am #

        Beth, THANK YOU SO MUCH!

      • Dr Ben January 19, 2012 at 1:18 am #

        Thank you, Beth :)

        • Elizabeth January 19, 2012 at 3:10 am #

          She does not take my insurance. Dr. Ben, what do you think about the Homocystex with normal homocystine levels?

          • Dr Ben January 19, 2012 at 7:22 am #

            Elizabeth –

            Doctors looking at only normal homocysteine levels are doing a massive disservice to their patients.

            Methylation deficiency can lurk behind normal homocysteine levels.

            I would start out first with Active B12 with Methylfolate for a month, increase the amounts taken and then switch to HomocysteX.


            Because it is best to slowly wake your methylation cycle rather than jump start it abruptly with HomocysteX.

            Start out by taking 1 sublingual tablet under the tongue first thing in the morning and see how you do.

            There are other potential mutations ‘lurking’ which may be worsened from various nutrients or making one sensitive to them.

            A lab test I am developing will point this out and will be available in a couple weeks.

    • Dr Ben January 19, 2012 at 8:06 am #

      Elizabeth –

      Given that I’ve no idea who is in Colorado to help you with MTHFR and you have such extensive symptoms, I highly highly recommend a consult. I know I can help you improve.

      Please do call 800-547-9812 and speak with one of my team members about scheduling a consult.

  64. Sammy January 20, 2012 at 4:14 am #

    Hi Dr. Ben

    I recently was told that I am hetro A1298C after experiencing 5 miscarriages. My concern is that my husband is Homo C677T and now we are not sure about continuing to try to have children, we have 1 daughter 4yrs old. If I’m hetro A1298C and he’s homo C677T what are the chances that our child would have it? How severe is it to have both parents being a carrier? Should we have our daughter tested? In the past I’ve been diagnosed with sever gastritis, bleeding ulcers, bipolar, and weird leg swelling (ultra sound showed no thrombosis) Do you think this is from the mutation? I’ve also had pre-cervical cancer and now they are watching my breasts (had 2 biopsies) as they are showing signs of lobular carcinoma in situ. Has the mutation have any breast cancer symptoms? I know i’m asking alot of questions but it seems that my Dr.’s don’t know how to answer them.
    Thank you for your time and THANK YOU FOR YOUR WEBSITE!!!

    • Dr Ben January 20, 2012 at 9:22 am #

      Hi Sammy –

      The likelihood of your daughter having a MTHFR mutation is very high – 100%. Your daughter definitely has 1 copy of C677T from her father and has a 50% chance of inheriting your 1 copy of A1298C making her a potential compound heterozygous MTHFR mutation.

      She should be tested for MTHFR and then supplemented accordingly.

      Your diagnoses point to MTHFR but also additional mutations which you have not yet been tested for. In a couple weeks, I will have a test available which will identify other mutations which are near to the MTHFR enzyme and cause additional issues if not addressed.

      The C677T mutation has more breast cancer issues than the A1298C but we all can get cancer – mutations or not – our planet is a mess.

      There are many things you and your family can do to be proactive here.

      I’d start with this new test once it arrives and then we can go from there.

      Your husband, though, should immediately address his mutation by supplementing with 1 sublingual tablet of Active B12 with Methylfolate before breakfast and 1 before lunch (away from food is best by 20 minutes or so).

      I think there are other issues to your miscarriages which are not yet discovered. I suspect elevated histamine with your symptom picture – not necessarily a main cause of miscarriage but definitely a contributor to your symptoms.

      You should all be on multivitamins which have methylfolate and methylcobalamin in them. For your 4 yr old daughter, I recommend she chew 1/2 tablet of Optimal Multivitamin Chewable with breakfast and 1/2 tablet with lunch. You and your husband should be taking 3 capsules of Optimal Multivitamin at breakfast, 3 at lunch and ideally 2 more at around 2 pm.

      Probiotics are also critical along with vitamin D3.

      I’ll start with vitamin D3.

      Your daughter can be taking 1,000 IU of vitamin D3 per 25 lbs of body weight. I suspect she weighs about 25 lbs or so. She can likely take about 4 drops of Vitamin D360 ONCE A WEEK – not daily. This provides her with a bit more than 1,000 IU a day

      You and your husband should be taking about 5,000 IU of Vitamin D3 daily during the winter months. This equates to about 18 drops of Vitamin D360 once a week.

      For probiotics, I recommend your daughter take 1/8th teaspoon of ProBiota 12 Powder and you and your husband take 1/4 teaspoon. Take after meals always. Some gas and bloating is common for the 1st few days of taking ProBiota 12 Powder as the bad bacteria die-off.

      Vitamin D3 is critical for breast health – so is liver support, avoiding xenoestrogens and identifying your estrogen fractionation.

      Iodine is also critical for breast health.

      I can provide you more information via a consult if desired.

      Hope this gets some of your questions answered ;)

      • Sammy January 20, 2012 at 4:47 pm #

        Hi Dr. Ben!
        Thank you so much! I just scheduled my an appt with my daughters dr to get her tested. How common are these mutations? Is this something that we should really be worried about if we consider having more children?

        Thank you so much!!!!!!!

        • Dr Ben January 20, 2012 at 8:24 pm #

          Sammy –

          MTHFR mutations are very common – more than 60% of the population has the single copy and about 40% have the double copy. Italians have a very high rate of MTHFR mutations as do Mexicans (even higher) and Hispanics in general.

          Should you be worried about MTHFR if you are considering more children? Yes and no. I’d rather say you should be aware and proactive.

          Listen to this podcast on how to optimize your pregnancy in terms of supplementation – and why. I will be making more podcasts that provide information about various specific recommendations for each MTHFR mutation.

  65. dut January 22, 2012 at 3:50 am #

    Can you explain why undermethylators have high histamine and how it is related to mast cells?

    thanks :)

    • Dr Ben January 23, 2012 at 6:51 am #

      Dut –


      Undermethylators have high histamine because in order for histamine to become broken down…it requires methylation! ;)

      Histamine is released from mast cells.

  66. Audrey January 22, 2012 at 7:38 am #

    I’m so excited to find this site and you Dr. Ben. I recently had an “adrenal crash” or something that made me very, very sick and as a result of that and many medical tests later I recently found that I am “compound heterozygous for the C677T and A1298C-one copy of the C677T mutation and one copy of the A1298C mutation” (that’s exactly what it says on the lab test results).

    I tried a methyl B vitamin protocol on my own at home and got MUCH, MUCH worse real fast… I tried higher dosages and then once again with just the recommend dosage on the bottle one day.. (even that small amount made me feel very poorly).

    I’ve read theories about detox, potassium drop, “start up” of the neural pathways, and induced folate deficiency all being possible explanations for these negative reactions that a good number of us mutants (:-)) have when starting these protocols.

    I’d love to hear what your thoughts are about what”s causing the negative reactions Dr. Ben.

    I”m very eager to heal as I’ve suffered from fibromyalgia, pervasive and severe food sensitivities, and other issues for over a decade but I’m also very nervous to try the Bs again.

    Thanks so much!

    • Dr Ben January 23, 2012 at 8:38 am #

      Audrey –

      You have other mutations that are causing your poor reaction most likely.

      You also may be truly detoxing too quickly as you opened ‘Pandora’s Box’ which has been shut your entire life.

      There is no ‘MTHFR protocol’ unfortunately. Many many many ask me for it but it is truly individualized as the other mutations are at play here – and yes – they are common.

      My guess is you may have elevated histamine levels. Try taking about 50 mg of niacin in the form of nicotinic acid to help offset the symptoms you’re feeling. This is 1/10th of a tablet of Niacin by Seeking Health. Simply break it up.

      Don’t take the B’s until you consult with me first or order the genetic test. If you’d like it, please use the Contact form here and email me your ship to address, name, email and phone. The test is $475 and the results come in about one week. You’ll have to have your doctor draw the blood and perform the buccal swab. You pay the genetic lab directly.

      • Audrey January 24, 2012 at 1:48 am #

        Hi Dr. Ben,

        Can you explain what the test covers that I don’t have already? I do know that I also have a HLAB27 gene mutation that a rheumatologist based a Sarcoidosis (autoimmune disorder) diagnosis on.

        I’m not sure I’m prepared to spend that much on additional testing now. That’s a lot of money for me right now when I’ve already spent quite a bit getting to this point.

        Another person who has been through this protocol suggested avoiding anything with folic acid in it. I started that revised protocol yesterday with extra potassium supplements and so far I’m tolerating it well. (knock on wood LOL)

        I’d be willing to consider ordering the test if I understand what it will tell us and how it help me get better faster.

        Thanks so much!


  67. Sara D'Amico January 23, 2012 at 1:17 am #

    Dear Dr. Ben,
    Our situation is desperate and confusing. I will be as brief as possible. Our son, who is almost 8, has always been unhappy and indifferent, with some moments of happiness. He has a long history of odd behaviors that would come and go – mostly anxiety and OCD driven behaviors. This past summer he became VERY violent with awful “rage attacks”. We sought treatment with regular psychiatrists and with a Bipolar dx from one and then ADHD dx from another and meds not working, we decided to see a DAN doc for answers, not “bandaids”. Turns out he is hetero for both the C677T and the A1298C. The doc recc. we do 5-MTHF 2.5 mg in the morning and then after school. I am telling you – we had the best two weeks of our lives. Our son was happy and comfortable and all the maladaptive behaviors either disappeared or decreased. Then, things started to change 2 weeks and 1 day after the first time we gave it to him. He started to revert back to some of the old ways and then the next day it was a little worse and then the last two days (especially today) he is completely different – either identical to how he was before the supplement or worse. The doc recc. we stop the 5-MTHF (and the last dose we gave him was yesterday am). He said in the 100s of kids that he has given this too, he has never heard of a tolerance being built so quickly so he wanted to err on the side of caution and stop it – we go see him tomorrow for a follow up. We are shocked and feel like this was all a cruel joke. I can honestly compare it to the idea in that movie Awakenings. We had our son back and now he is gone again. Have you ever heard of this? We are bewildered and hurting badly – and he of course is hurting the most of all. Please, any help or advice would be much appreciated.
    Thank you. SIncerely, Sara

    • Dr Ben January 23, 2012 at 8:30 am #

      Sara –

      Absolutely common.

      He is on too high a dose of methylfolate. You have to reduce how much he is taking and perhaps even skip some days.

      I see this A LOT so I am shocked that his doctor has not seen it much.

      You’ll get him back. You need to order targeted testing and a new test which I just had developed. It is in research phase still but it is available and is providing very impressive information for me. It is a comprehensive genetic defect test that tests more than MTHFR.

      I designed this test because I am seeing too many respond well to methylfolate and then not.

      This test shows WHY!

      If you are interested, please use the Contact form here on and email me your ship to address, email and phone number. I will have the lab send you the test kit. It is $475 and insurance does not cover it yet and not sure if they will for some time. The time you will save in guessing what to do next with your son makes the $475 worth it many times over. Disclosure: I have no monetary benefit from the test – I simply designed it and consult for the lab.

      I recommend you try giving your son 25 mg of Niacin in the form of nicotinic acid. This helps bind the methyl groups that the methylfolate has flooded his body with. Get him on the nicotinic acid ASAP. You can get it locally from your health store. He may ‘flush’ but that is ok – it will reduce in about 30 minutes or so.

      The 2.5 mg is WAY too much to start out. You have to TAPER up in order to prevent such reactions. No fault of the doctor as this is just too new of a therapy and not many docs understand the nuances of treating MTHFR as I do.

      I’m confident we can normalize your boy’s moods. It may take some time but with the right information (from the genetic test and other’s), we can make some serious headway.

      I already have in many kids – and adults.

      • Sara January 23, 2012 at 6:33 pm #

        Dr. Ben,
        Your email is very helpful and encouraging. We are going back to our doc today and he recc. we give our son half a capsule of the 5MTHF before we come in so he can see him… If you get this, we leave in a couple of hours 330 EST.
        Thank you so much for your response and we will let you know about the testing via the way you mentioned.
        Sincerely, Sara

        • Dr Ben January 23, 2012 at 9:05 pm #

          Sara –

          I wouldn’t give him anything in terms of 5-MTHF right now. I believe he has too much on board.

          However, his doctor may have a reason why he wants to give it to your son. I believe it is going to cause some pretty serious mood imbalances. Get niacin and have it on board so you can help neutralize the effects.

  68. J. Kelly January 23, 2012 at 4:19 pm #

    My half-sister was recently diagnosed with MTHFR (2 positive copies of the A1298C mutation, MTHFR clotting disorder). Her doctor advised that I get tested, along with members of our mother’s family. We are having difficulty (1) finding doctors that know where to refer us for the test, and (2) doctors telling family members that the test is too expensive and not worth the bother. We have a family history of heart disease, cancer and diabetes, and one of my cousins in his early 40’s just had a heart attack. We think it is vital to find out if any of our mother’s brothers and sisters have this mutation, and if they passed it on to their children as well, but some doctors don’t agree. Any suggestions??

  69. Elizabeth January 24, 2012 at 12:58 am #

    HI Dr. Ben,

    I just ordered the sublingual active B-12, I will be building up to the HomocysteX. My question is how long do people usually stay on the HomocysteX? and at what point should I switch to the optimal multi vitamin?


  70. shannon January 25, 2012 at 5:25 pm #

    Dear Doctor,

    I have recently seen a migrine specialist for severe migraines. He ran a TON of bloodwork and my results came back as this: Positive for one copy of the C677t, and one cpy of the A1298C. My homocysteine level was considered “normal” at 6.8, however the doctor said he likes to see it below 5. My vitiman D level was low at 23 and my vitiman B2 plasma was HIGH at 61.9 . Other than that the rest of my labs came back normal.

    My medical history includes: Selective IGA deficiency, with Anti IGA anitbodies. Ulcerative Colitis, 3 years of infertility, with between 10-12 implantation losses. Once I started baby asa, I was able to carry, though both my children were born premature (33wks, and 34wks, respectivly) with no explained reason. I have not had any DVT’s, but have had 3 superficial blood clots in my arms/hand. Positive ANA (1/60 speckeled) and on again, off again positive result for Lupus Anticoagulant.

    My current migraines, cause severe pain, nausea, aura in eyes, ears, numbness of face/head, veins that buldge in my forehead, and one time a severe migraine that sent me to the hospital due to drooping eyelid and weakness of the left side. Spinal tap, and MRI ruled out stroke (but what about TIA???)

    I am worried about this new development with the MTHFR. What would you recommend and where should I go from here? While the headache specialist found all this, he did not elaboate and due to other reasons, I have have decided not to see him anymore, but rather go back to my old neuro.

    I would apprecieate any/all advice and am so thankful to have found this website. Thank you for your time and consideration

    • shannon January 25, 2012 at 5:40 pm #

      I also wanted to add that after years of hemmoriagiac (sp) ovarian cysts and endometriosis, I had a total hysterectomy in 2009. Results showed stage 4 endo and adenomyosis (my doctor said he had never seen it so bad before). I am currently on hormone replacement and am a smoker (age 39), so this also adds worry with a possible blood clotting/stroke type thing as MTHFR.

  71. Cheryl Imhofff January 25, 2012 at 6:25 pm #

    Dr. Ben –

    I have been diagnosed with the mthfr homozygous. I had two known miscarriages before giving birth to my daugher (at the time I was not aware of my mthfr).

    I was 49 yrs old and my daughter was pregnant with her first child when I was diagnosed, so of course my doctor insisted my daughter be tested immediately. She is negative.

    Now my daughter has two children and I am wondering if it is possible for this trait to be passed to my grandchildren or does it come directly from the parents?

    Thank you,

  72. Carol January 25, 2012 at 6:43 pm #

    If I have mthfr, how do I assess whether I am under or over methylating; or blocked? I am having trouble adding folate, or methyl donors and would to know how to address it. I’m sure my many attempts to chelate and detox over the years have contributed to the damage as well as the toxin burden I carry.

    Now that I know this information, I want to help my twenty something daughters with this possibility. Would you recommend tests?

    Thanks for your good work,


  73. Vickie Simon January 25, 2012 at 10:17 pm #

    I am compound heterozygous for mutations C677T and A1298C. Dr. gave me Vessel Care, Same-E, B-12 Methylcobalamin, P-5-P B6. After tons of research I just ordered HomocysteX. One doctor’s research stated that trimethylglycine tends to inhibit methylcobalamin absorption. As a result he recommends dimethylglycine. What are your thoughts? Also, it was my understanding that B12 didn’t absorb well in the gut so sublingual was a better choice. In the HomocysteX the B12 will be in the gut. I am 41 nutritional labs show I am in excellent shape. Doctor said none of her patients test this well. Have a garden and try to grow my own food. I did show up deficient in magnesium and I am taking 400mg a day for that. After starting above items I have seem major improvements. I had a hysterectomy at age 32 but still have ovaries (adenemyosis spelling may not be right, sorry). Had major problems with monthly cycle since age 12 (throwing up, fever, debilitating cramps, cysts bursting, and heavy periods). When my cycle happens I have a flood of estrogen in the breasts (painful, much less swollen then they were before) tests show I look clear of cancer issue from the estrogen in the breast tissue. As I just started the above items in November do you feel the estrogen in the breasts will reduce? I wonder if when the estrogen is released I am older and I know less progesterone is available to neutralize the estrogen its just too much at one time to handle. My tests indicate the liver is processing the estrogen very quickly which is probably good and bad. Maybe a back up is happening because of methylation. The estrogen build up causes issues similar to PMS still and I still have cysts burst on the ovaries from time to time. I did not find anyone else with this estrogen issue on your website. Maybe I am the only one. Tests show I have normal levels flowing through my body. My daughter who just turned 12 tested positive for one copy of the A1298C mutation. My fear is she will have troubles with estrogen, cysts, severe cramps, fevers, mood swings and adenemyosis as I have had all my life. Have you heard of any of this? I want to keep her safe from this.

    • Dr Ben January 26, 2012 at 8:11 am #

      Vickie –

      Compound heterozygous MTHFR mutations can lead to excess estrogen due to the lack of SAMe being produced. SAMe is required to drive COMT enyzme which is partially responsible for estrogen breakdown.

      Careful of taking too many things all at once. Start in slow and work up and stay at a certain amount for awhile and then add in other things. Otherwise you may back peddle.

      Methylcobalamin is well absorbed sublingually and orally by most people – unless they are on antacids or have pernicious anemia. Even with pernicious anemia, sublingual B12 is effective if taken in high enough amounts.

      TMG won’t inhibit B12 absorption. TMG assists in providing additional methylation support if the B12 is not in high enough amounts. Either the methylcobalamin or the TMG with donate a methyl group to homocysteine in order to make methionine. If high enough amounts are used of methylcobalamin, then TMG is not needed. I am actually renaming the HomocysteX to HomocysteX Plus and bringing in a ‘new’ HomocysteX that is without the added B2 and TMG. There are various reasons for this which I won’t go into detail now.

      Liver support is a good idea for you. Consider taking 1 capsule of Liver Nutrients with dinner to support your liver and break down of estrogen metabolites.

      If you provide your daughter a healthy lifestyle, her single MTHFR mutation is not going to pose much issue.

  74. Joy January 26, 2012 at 5:04 am #

    I have a 3 year old son with MT?HFR c677t heterozygous. His homocystine level was 5.7. His vitamin D-25 hydroxy level was 21. His TSH levels was 3.81. He has quite a few food sensitivities and is unable to digest casein. He also has a bacterial overgrowth. He has always had major sleep issues that worsen in the winter. His doctor put my son on fish oil, Theraputic grade probiotics and half a dose of FolaPro (we cut the pill in half). She also put him on the GAPS Diet (The Gut and Psychology Syndrome Diet) to help with the bacterial overgrowth and heal his gut so most of his food sensitivities will go away. His sleeping improved that very night and started sleeping through the night the majority of the time within a couple of weeks! But starting in November he is back to sleeping horribly again, though better than last winter. I can’t remember the last time he has slept through the night. After thinking about it, winter has been awful since the time he was born. I think part of it is not being able to be outside as much and not getting as much exercise.This winter is the “best” so it is an improvement, but is definitely not good. His behavior initially improved too. He was able to focus better and was much calmer, but along with not sleeping his behavior has regressed as well. He is back to sensory stimulating behavior, such as head banging on the couch & quickly shaking his head back and forth and this wild uncontrollable behavior, and being extremely, ear piercingly loud. He is easily over stimulated too. These behaviors do not happen all the time but it is more frequent that it has been in a long time and sometimes it is due to a reaction to some food.

    Is there something I can do to help with the winter time? What can I do to improve his sleeping? PLEASE!!! What can I do to decrease the sensory seeking behaviors? Is FolaPro a good L-5 Methylfolate to be on and is the half dose appropriate for a 3 year old? Is there anything more that he should be taking?

    • Dr Ben January 26, 2012 at 7:44 am #

      Joy –

      I recommend talking with his doctor and getting him off the methylfolate for now. See if he improves. My guess is he is overmethylated and that is causing the sensory seeking behaviors.

      If he is not taking probiotics each day, he should be.

      I would also evaluate his vitamin D3 levels or least increase them a bit more than what is provided in the summer months.

      You must always avoid gluten and casein. These two are killers for kids – and adults.
      My entire family is dairy free and gluten free so if I can do it, others can as well. It is actually not that difficult and the rewards are well worth it.

      I recommend you consider giving him:
      – 1,000 IU of Vitamin D3 per 25 lbs of body weight. This is 1/2 a drop of Liquid Vitamin D360. Thus, consider giving him 4 drops a week anytime of day in a bit of juice – about 1 ounce of juice.

      ProBiota 12 Powder: 1/8th teaspoon after dinner

      – Consider getting your son on 1 capsule of Optimal Brain daily.

      Chewable Kid’s Multivitamin: After 2 weeks of being off of methylfolate, consider beginning him on 1/2 tablet with breakfast. That is it. See how he does with that.

      Optimal Fish Oil Liquid: 1 teaspoon daily on some food or in a smoothie along with frozen blueberries and protein powder that is dairy free. This fish oil tastes quite good and if mixed in a smoothie or almond-yogurt, he will take it easily. My boys take it straight.

      Make sure you feed him some protein at night before bed – and no sugar, no TV or games for 1 hr prior to bed. Just reading a quiet book or taking a bath with Mom or Dad.

      Consider getting a rebounder. It is a mini-trampoline and you’ll find he will go there and bounce himself like crazy whenever he wants. It is great exercise, quiet and very healthy.

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