MTHFR Mutations with Low Homocysteine a Problem? Yes

Better Lab Testing Needed

Most research on MTHFR mutations point to the C677T homozygous mutation and how it causes elevated levels of homocysteine.

There is very little research in regards to the A1298C MTHFR mutations.

Then compound that with even less information on what to do successfully with A1298C mutations.

Then compound the issue that there is very little research done with heterozygous MTHFR mutations. The only research I’ve seen about heterozygous MTHFR mutations is basically summarized as, “No big thing.”

Well. I think absolutely the other way. Research or no research. Doctors just need to think a little outside the box and realize there are other things that must be at play here because those with heterozygous MTHFR mutations are NOT doing well!

When doctors discover elevated homocysteine levels in their patients, that may trigger them to order a MTHFR Genetic Test. At least, the doctors who know about MTHFR would order it.

Elevated homocysteine levels are typically found in those with homozygous C677T mutations.

But MTHFR mutations are way more than just elevated homocysteine; in fact, those with MTHFR mutuations may demonstrate normal levels of homocysteine.

Many doctors do nothing with MTHFR mutations if homocysteine levels are WNL (within normal limits).

This is what patients commonly hear over and over again (this is taken directly from a doctor’s email to their patient – and the patient posted this on a public forum):

MTHFR was positive for 1 copy of C677T and negative (normal) for A1298C.  This means you are heterozygous for MTHFR.  This has NO increased risk or coronary disease and clotting.  This is a common finding in the general population.  Your homocysteine level was normal so therefore no risk for you with clotting.  If you would have have 1 copy for each of the above mutations, then there is some increased risk and treating with blood thinners would be the approach.[4]

Is this the right thing to do?
Not in my mind.

To be fair to the doctor, she is correct based on what research is stating based on these types of MTHFR mutations.

But the issue is many women with heterozygous C677T are miscarrying over and over yet their homocysteine levels are ‘normal.

What?!

Something else must be checked as there is obviously something being missed here.

Doctors just cannot go with the flow and say, “You’re fine. There’s no risk with your MTHFR mutation because you have low levels of homocysteine.”

Dig some more.

Think outside the box.

Why isn’t it right to just use homocysteine as a guide to see how MTHFR mutations are affecting people?
Because homocysteine is NOT the most sensitive marker for cardiovascular risk.

According to Kerins, Koury et al and their study published in the Americal Journal of Clinical Nutrition:

Plasma S-adenosylhomocysteine appears to be a much more sensitive indicator of the difference between patients with cardiovascular disease and control subjects than is homocysteine.[1]

Then add this to further the blow:

Homocysteine-lowering vitamins do not lower plasma S-adenosylhomocysteine in older people with elevated homocysteine concentrations.[5]

Yes, this was a study with older men but it shows that we need to evaluate pregnant women and s-adenosylhomocysteine.

Thankfully, some researchers are thinking outside the box and they have done something significant regarding the human umbilical vein and s-adenosylhomocysteine:

The aim of this study was to estimate the relationship of endothelial dysfunction induced by intracellular S-adenosylhomocysteine (SAH) accumulation and DNA methylation in human umbilical vein endothelial cells (HUVEC)…..These findings suggest that SAH can act as the potential molecular biological marker in the promotion of atherogenesis.[6]

What does that mean?

That means that if a mother has elevated s-adenosylhomocysteine levels, the umbilical vein and any tiny blood vessel in a developing fetus can become blocked due to atherosclerosis.

Typically, atherosclerosis takes years to develop. However, we are talking tiny capillary-sized arteries in a fetus. This means that it will not take long at all to develop atherosclerosis in a developing fetus if a mother’s s-adenosylhomocysteine levels are elevated.

I’m not done yet.

…results may show s-adenosylhomocysteine (SAH) might cause cellular DNA damage in hepatic and microglia cells by DNA hypomethylation, resulting in irreversible DNA damage and increased cell cytotoxicity. We suggest that SAH is a better marker of cell damage than homocysteine (Hcy) in hepatic and microglia cells…We suggest that SAH is a better marker of cell damage than Hcy in hepatic and microglia cells.[7]

That’s huge. That means that s-adenosylhomocysteine causes significant cellular damage including the neurological system’s cells.

Autism? Miscarriages?

This may partially explain the scores of women who have heterozygous C677T or heterozygous A1298 mutations and have miscarried numerous times.

Here are some forum posts I’ve found:

I have had 3 miscarriages since January, one being a twin pregnancy. I just recently found out that I tested positive for Heterozygous MTHFR C677T. I saw a specialist (RE) at the Cleveland Clinic last week that told me this was niot causing my miscarriages. I have been tested and tested and tested and this is the ONLY thing I am positive for. I have seen that many people take baby aspril or take shots of heperan along with extra folic and B vitamins. PLEASE HELP! I just don’t know who to believe and who not to believe.[2]

Makes you wonder what would have happened if the doctor tested for s-adenosylhomocysteine instead of homocysteine. It also makes you wonder what would have happened if this woman took 5-MTHF, methylB12, P5P, TMG, R5P, baby aspirin and fish oil.

I just miscarried at 15 weeks.  I came back with the same results…heterozygote C677T and everything else tested negative.  I spoke to my doctor tonight and she is going to send us to a perinatologist (sp?) if and when we do get pregnant again.  She said that studies have been inconclusive but that some Dr.s would put one on a blood thinner.  I would recommend a referral to a high-risk dr. Good luck and God bless you and your family.  My heart is with you.[2]

Here is a woman who tests positive for heterozygous A1298C:

Hi, I am 33 years old and have had 3 miscarriages in the last 2 years.  After numerous tests, one came back positive.  I am positive for the Heterozygous A1298C mutation of MTHFR.  What does this mean for me having children?  I have a perfectly healthy 13 year old, and had no problems with my pregnancy with her.  All of the research on line talks about the C677T mutation or a combo of the two.  I want info on just the Heterozygous A1298C and what I need to do?  I am so worried, and don’t know where to go for help![2]

There are countless women out there with heterozygous C677T mutations and heterozygous A1298C mutations that are miscarrying or having other symptoms highly related to the homozygous C677T mutation.

This tells me that testing is inaccurate for MTHFR care.

I highly recommend doctors and patients demand testing for the more sensitive laboratory values when patients come back positive for ANY MTHFR mutation:

  1. S-adenosylhomocysteine (SAH)
  2. Methylmalonic acid (MMA)
  3. More testing as I discover it will be posted. I’m not satisfied with these two.

This also tells me that we need to use more than just folic acid in treating any MTHFR mutations.

I highly recommend doctors utilize a wide-net approach to lowering homocysteine – AND s-adenosylhomocysteine in their patients.

Doctors that only use folic acid in high doses for MTHFR mutations are doing a major disservice to their patients.

Doctors that are not doing anything for heterozygous MTHFR mutations are doing a disservice to their patients.

We need more doctors who handle patients like this – proactively:

I also had 3 miscarriages in a row.  Doctors have run 3D ultrasounds, genetic tests on my husband and I, etc.  The only thing that came back was heterozygous for C677T.  I am with a fertility specialist now who said he will treat this with folic acid supplements and baby aspirin when we start the IVF process.  Hopefully this will help.[2]

I wish the doctor ran the blood tests I suggest above along with providing 5-MTHF, methylB12, fish oil, TMG and other nutrients which suppport the breakdown of homocysteine.

But – the main point of that doctor is he is taking action. He is not simply sitting on his haunches and saying there is no risk because you have heterozygous MTHFR C677T.

The lab test you can have your doctor order to check the main areas of homocysteine metabolism and methylation are in the Methylation Profile Test by Doctor’s Data.

Researchers!
Please perform a study measuring levels of s-adenosylhomocysteine in those with MTHFR mutations who have ‘normal homocysteine’ levels. I’ll share the Nobel Prize with you.

Have you miscarried and only tested heterozygous A1298C or heterozygous C677T? Please comment below.

What do you think of this more specific lab test: s-adenosylhomocysteine?

Pulling for you,

Dr Ben

References:

1. Kerins et al, Plasma S-adenosylhomocysteine is a more sensitive indicator of cardiovascular disease than plasma homocysteine, Americal Journal of Clinical Nutrition
2. MedHelp.Org and Search Terms: A1298C heterozygous, C677T heterozygous
3. Sample Methylation Lab Test from Doctor’s Data
4. Yahoo Forum on Pregnancy and Immunology
5. Green et al, Homocysteine-lowering vitamins do not lower plasma S-adenosylhomocysteine in older people with elevated homocysteine concentrations, British Journal of Nutrition
6. Yu et al, Relationship of impairment induced by intracellular S-adenosylhomocysteine accumulation with DNA methylation in human umbilical vein endothelial cells treated with 3-deazaadenosine, International Journal of Experimental Pathology
7. Liu et al, Effects of S-adenosylhomocysteine and homocysteine on DNA damage and cell cytotoxicity in murine hepatic and microglia cell lines, Journal of Biochemical and Molecular Toxicology

 

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136 Responses to “MTHFR Mutations with Low Homocysteine a Problem? Yes”

  1. Sterling September 21, 2011 at 1:56 am # Reply

    Dr. Ben I have been told to take SAMe S-Andenosymethionine in order to lower S-Adenosylcysteine.
    Is there any way of finding a good active SAMe?
    And the methylmalonic acid I have found to be linked to mercury toxicity. Here is an interesting link from PubMed. http://www.ncbi.nlm.nih.gov/pubmed/21295329
    I do have 3 times the amount of lead in me. The mercury isn’t showing up but I am told once I chelate the lead that I will show very high levels of mercury do to lack of methylation for many years.
    Where can I get these tests? I will ask my doctors to test but they tend not to listen.

    • Dr Ben September 21, 2011 at 8:58 am # Reply

      Sterling –

      Use Betaine. Research supports its use in lowering s-adenosylhomocysteine.

      It is much less expensive than SAMe. The new formulation of Homocystex has 600 mg of Betaine in it – along with L-5-MTHF, MethylB12, P5P, R5P – so it is very comprehensive formula.

      SAMe is VERY unstable as a nutrient. I don’t recommend buying it directly. Betaine as TMG is much more stable and just as effective – and way less $$$.

      You can get the lab tests by clicking on the links above – at least the Methylation Test.

      The MMA test your doctor should be able to order quite easily.

      Given your heavy metal toxicity, the potential for you to be deficient in methylcobalamin is quite high.

      Do NOT let your doctor test you for ‘vitamin B12′ because what that is simply serum cobalamin.

      Serum cobalamin is WORTHLESS to the body until it is methylated. Given that mercury steals the methyl groups, cobalamin cannot get methylated which means you may be deficient in methylcobalamin.

      However, I believe you are taking Homocystex and that contains methylcobalamin.

      This shows how important it is for MTHFR individuals to take methylated nutrients.

      Imagine how many MTHFR individuals are taking crap like folic acid and cyanocobalamin?

      Then add the fact that many MTHFR individuals are highly toxic because they are hypomethylators which causes them to have elevated mercury and other metals.

      Thus, they are not getting better while taking standard cyanocobalamin and standard folic acid.

      Dr Ben

  2. Helen September 21, 2011 at 2:00 am # Reply

    Thank you so much for putting up this information on your website. I’m in Australia, so I can’t order tests through Doctor’s data, but I will see my doctor here and organise the additional testing. I am heterozygous C677T and my husband is heterozygous A1298C. I don’t think homocysteine levels were checked. This was investigated after our baby was born at 18 wks and clotting was found on the foetal side of the placenta. They didn’t think mthfr caused my premature labour, as he was born alive. However they believe he may have been compound heterozygous and had clotting issues. It’s all confusing and after five years of infertility and proceeding to ivf, I don’t really understand why this was not investigated sooner. I had been given the impression that everything that could be tested, had been. At least they have now and we can get the proper treatment for the future.

  3. lindy September 22, 2011 at 5:33 pm # Reply

    I have had 4 miscarriages in the last 7 years with no live birth. Was diagnosed with heterozygous a1298c mutation in 2006 after my second m/c but was told that it has no impact on m/c as 47% of U.S population carries the same mutation. I will say that the hematologist put in about 6 months of research on this particular mutation and risk of miscarriage. I don’t know where to go from here. I had my serum folate tested several times and always came back over 21.7(labcorp). Was on prenatal vitamins at the time. B12 around 500. Not sure why the serum folate would be so high? Does that mean i have no issues metabolizing folic acid or does it suggest it doesn’t metabolize very well and circulated in my blood. I have been on prescription prenatals most of time since 2003. I’m concerned now about taking so much folic acid as it can cause cancer if taking too much for too long. Last pg I was put on Neevo, baby aspirin and prometrium and lost baby at 8 weeks.Just very confusing as most doctors do not know much about. One doctor wants me to go on Lovenox next time but said extra folic acid not necessary as my serum folate was above normal. Homocysteine has always been between 3 and 5 while on rx prenatal.

    • Dr Ben September 23, 2011 at 6:19 am # Reply

      Lindy –

      Serum folate measurements are not good.

      If your serum folate is above normal, that can mean that the folic acid is not being converted into 5-MTHF.

      Get your homocysteine levels checked AND your s-adenosylhomocysteine levels checked.

      Homocysteine is not a sensitive marker – you need to measure s-adenosylhomocysteine.

      Talk with your doctor and order this test –
      http://www.healthegoods.com/methylation-profile-doctors-data.html

      See if they can order it and bill your insurance.

      If they cannot, you may order it from me and I’ll walk you through the results. I have free 15 minute consults and over that they are paid. We can make some headway in 15 minutes. If you need more, just let me know.

      In my opinion, all parents need to be treated no matter what type of MTHFR mutation they have.

      What is your husband? Need to test him for MTHFR mutations.

      No one is considering an important equation.

      Researchers and doctors both are not considering the fact that baby in your womb is made from your genes AND your partner’s genes.

      Thus, doctors must test your partner’s genes also for MTHFR mutations and then understand the potential risk to developing baby.

      If you are heterozygous 1298 and your partner is as well – or carries a 677 mutation – then the likelihood of your baby having two mutations exists.

      In fact, at least a 25% risk exists as MTHFR is an autosomal recessive gene.

      Autosomal recessive genes:
      “Two unaffected people who each carry one copy of the mutated gene have a 25% chance with each pregnancy of having a child affected by the disorder.”

      There is no way to test the homocysteine levels or s-adenosylhomocysteine levels in your baby so one has to assume if mother and father have MTHFR mutations – heterozygous or otherwise – then you have to treat proactively in order to prevent a miscarriage.

      That said, it is foolish in my mind not to proactively treat for MTHFR in all situations because the baby may carry more that just your mutation – but the partner’s as well.

      Again, serum folate could be high because it is not going through the MTHFR enzymatic process. It is being held up because the enzyme is mutated. Just because homocysteine levels are normal doesn’t mean s-adenosylhomocysteine is.

      Serum folate can also be high just because…you’re taking too much.

      However, you cannot take ANY standard folic acid. You MUST take 5-MTHF or L-5-MTHF only and combined with B6, methylcobalamin, vitamin B2 and TMG. I also highly recommend Krill Oil and EPA/DHA.

      I highly recommend you also test:
      – 24 urinary iodide to measure your iodine levels (women are commonly low)
      – serum vitamin d3
      – methylmalonic acid (MMA)

      Read this:
      http://doctorsdata.com/methylation.pdf

      And consider this test as well:
      http://www.holisticheal.com/health-tests/nutrigenomic-testing

      Get your Methylation Profile so you can see what your s-adenosylhomocysteine levels are.

      Get your partner tested and see if any MTHFR mutations exist.

      Keep me posted ;)

      I want you to bring a healthy baby home!

      Best,
      Dr Ben

      PS – there may be other things going on as well beyond the A1298C heterozygous mutation. Have you been tested for all other possibilities?

      • Lindy September 23, 2011 at 12:15 pm # Reply

        Thank you so much for your reply. I have been tested for antinuclear antibodies,lupus,Factor V Leiden,Prothrombin-FactorII.On Lupus panel the first time it showed a higher than normal Protein S Free(135%) but had it retested and showed 117%. Antinuclear Antibodies was fine.Anticardiolipin Ab,IGM,Qn was 9 and lab values are negative under 10. I thought this was borderline but geneticist said it was fine.

        Now my real concern is that you said my folate levels are not good. I have been on prenatals for 7 years and had the serum folate levels tested once in 2004 and once in 2006.Both times it showed a lab value of over 21.7 with no exact number. I have asked every doctor that I have seen over the years (hematologist,OBGyn,Endocrinologist,Internal Medicine) and they all said that it was good to have a high Folic Acid.They didn’t flag my result on lab test as High either. I’m very concerned as I read that a high folic acid level can cause cancer. Should I worry about this? Is 7 years of taking 1mg plus food sources a concern? Is the Neevo prenatal fine for me to take. I was concerned about that specific prenatal as i read that it is equivalent to taking 7mg of regular folic acid.

        My husband has not been tested. I will call to make an appt with the geneticist to have him checked as well. My mother lives in the Netherlands and was diagnosed with esophageal cancer a few years back. I mentioned to her that I have the mutation and she should be tested but doctors there do not even know what it is.;

        Thank you so much for your response. Your website is a great source of information. I wish I could find a doctor here in the Houston area that specializes in MTHFR. Doctor wants be to go on Lovenox next time I get pg but not sure if that would give me a great chance of success.

        • Dr Ben September 24, 2011 at 2:32 am # Reply

          Lindy –

          Esophageal cancer is linked to MTHFR.

          In my opinion, everything in moderation. There isn’t any nutrient that should be elevated in the human body as the human body – or any living thing – requires balance. If anything is out of balance, dysfunction occurs. Dysfunction leads to disease.

          And – in my book – there is no disease – only dysfunction.

          I would not stress or worry about your folate levels as stress and worry are not healthy nor are they effective at resolving anything.

          Instead, I would evaluate your methylation, your husband, your MMA and get off any standard folic acid completely.

          I would then get your serum folate levels retested once you are only taking 5-MTHF, active B12, B6, B2, TMG, CoQ10, EPA/DHA, nattokinase.

          NeevoDHA is a decent prenatal to take. I don’t like the fact that it is not a comprehensive prenatal at all. It also contains just normal folic acid. Why??
          http://www.neevodha.com/wp-content/uploads/NeevoDHA_PackageInsert.pdf

          This one contains active folate and is comprehensive:
          http://www.healthegoods.com/prenatal-pro-essential-packets.html

          However, that one may not have enough 5-MTHF in it. If not, you can always obtain active 5-MTHF separately and increase to the dose your doctor recommends. But – again – it depends on what your husband’s MTHFR mutation is – if any.

          Lovenox is a smart thing to do – but if your husband has the 1298 mutation, it is way more than clotting that is the issue – it is the lack of methylation.

          This is where 5-MTHF, methylcobalamin and TMG come into play as they all increase methylation. Those with A1298C mutations are hypomethylators – and that causes developmental issues.
          http://onlinelibrary.wiley.com/doi/10.1002/bdra.20670/pdf

          Dr Ben

          • Lindy September 24, 2011 at 1:48 pm #

            Thank again Dr Ben for taking your time to respond to all of my questions.

            I took the regular Neevo instead of NeevoDHA.I think the Neevo has the metafolin form and some regular Folic Acid.

            I have been off any supplement now for 3 months since my last miscarriage. You said I should get my levels retested. Is it a good idea to test being off the supplements first and then retest after i start taking the supplements? Do people with MTHFR always have to supplement or is it safe to just get folate from food? For the first 30 years of my life I never took anything. ‘

            I will call my mother to make sure she gets tested as well. With that knowledge they might be able to treat her differently.So even having just one copy of the a1298c increases your chances of all types of cancers including esophageal?

            I might take the opportunity to get a consult with you sometime soon. to further discuss this subject as I might have too many questions for you to answer online.

            Thank you

    • Tami October 13, 2011 at 6:17 pm # Reply

      Lindy,

      I wanted to comment because I have had several miscarriages and want to share what I did with my last pregnancy and kept her alive. I was on heparin for 3 preg. and lovenox for the next all ending in miscarriages. I added Nattokinase and she lived! Follow what Dr. Ben says paying special attention to include nattokinase. I was not on any heparin or lovenox, only nattokinase, and baby aspirin. Blessings and well wishes, Tami

      • Dr Ben October 14, 2011 at 2:18 am # Reply

        Tami –

        Thank you for sharing. That is excellent to know first hand experience.

        How much Nattokinase were you taking? Dosage?

        Flow Fx by Seeking Health contains 100 mg of nattokinase NSK-SD which is a superior form of nattokinase. This equates to 2000 FU of nattokinase.

      • kelly October 14, 2011 at 7:02 am # Reply

        tami – did you take the nattokinase throughout your whole pregnancy?

  4. Lindy September 23, 2011 at 12:36 pm # Reply

    Ps What are the normal levels of Serum Folate?

    • Dr Ben September 23, 2011 at 5:42 pm # Reply

      Lindy –

      Lab values are dependent on many factors, including patient age, gender, sample population, and test method. The numeric test results can have different meanings in different labs.

      It is important to ask your local lab and your physician.

      Best,
      Dr Ben

  5. kelly October 14, 2011 at 8:03 am # Reply

    My story is crazy. For years and years and years…i did not get pregnant and had early miscarriage. At 35 i was beginning to think it was not going to happen for me. I decided to go through with a breast augumentation that i had been holding off on until “After I had kids” 2 weeks after my surgery…i found out i was pregnant. This was in March 2010.

    Prior to my breast surgery i was on many supplements trying to get my body in the best state of health i could hoping for a speedy recovery and also trying to repair a shoulder fracture i had in January and Broken toes in November. I was taking a prenatal, dha, cellfood drops, drinking smoothies with super food supreme powder and also taking a “tissue repair” pill i had bought at the local nutrition store.

    i was in AWE of hearing the news i was pregnant and became obsessed with WHY after all these years..i knew it had to do with something i was taking..intuition told me that….. my intuition also told me something was thininng my blood.

    I was put on bed rest for placenta issues at 20 weeks until i was at 32 weeks. i then went to my doctor and said you will think i am crazy but this baby needs to come out by the 22nd of November—on November 24th she came out via emergency csection due to placenta abruption.( i just learned that placenta issues can be due to this mutation)

    after she was born i began researching/googeling the supplemtents i was taking and attached the word pregnancy.

    in August 2011 we found out we were expecting again and ten days later i miscarried.

    i was not satisfied with the response “miscarriage happens more than you hear about” response

    I had them run the the blood based off a family history of my father having blood clots ever since i can remember and a half sister having multiple misscarriages and a stillborn due to placental abruption.

    I came back positive for heterozygous c677t mutation and normal for the a 129ac mutation.

    my guess was the nattokinase along with my increase of b vitamins were the reason i became pregnant post suregery.

    i am in post ovulation 2 week wait and now am terrified of miscarrying again or some of the other horror stories i have read about since being diagnosed.

    i requested my lab results myself from quest and go see my obgyn tomorrow to discuss.

    My degree is in Health Information Management and i left the field back in 1999 due to having very little faith in healthcare due to past experience and observation. I am wondering Dr.Ben if you can help.
    Warm Regards,
    Kelly
    ( i apologize for error this was sent from my not so smart smart phone)

    • Dr Ben October 14, 2011 at 8:34 am # Reply

      Kelly –

      Thank you for sharing such a powerful and personal part of your life. The more others read of situations like yours, the more they will realize the seriousness of MTHFR mutations – even if ‘only’ heterozygous.

      I do think I can help you – I surely would like the opportunity to help increase the likelihood of you having a healthy pregnancy which brings a healthy little one into your arms.

      For starters, do test your partner/husband for MTHFR mutation.

      Also, need to test your Methylation Profile, homocysteine, thyroid, adrenals, clot study, D-dimer and others.

      I’d be honored to spend 30 minutes working with you. There is much to a healthy pregnancy – even beyond a MTHFR mutation.

      If you’d like, consider scheduling a consult here. 30 minutes is a good initial amount.

      In health,
      Dr Ben

      • kelly October 14, 2011 at 7:59 pm # Reply

        Thank you Dr Ben.
        I just got back from my OBGYN and as i suspected he told me that there is NO confirmation that it is linked to miscarriage and it is a very controversial issue and he doesnt even order these screens ( i knew that and thats why i asked his PA to send the order for bloodwork)
        With that being said i would like to schedule a consult but should i send you my labs first? And how can i get my partner tested ? thank you so much for your speedy response!
        kah

  6. Jill November 23, 2011 at 2:52 am # Reply

    Dr Ben,
    I was just told I have the MTHFR mutation , Double A1298C. I am 8 weeks pregnant. I have had 2 perfectly fine pregnancies with no issues and then had a tubal. Im not sure why my dr. tested me for this except bc of the tubal? Other than that NO miscarriages.. I am 25 and married. I was told I need to take heparin injections 3 times a day along with folic acid and baby asprin. I feel that maybe the injections are a little of an exaggeration. I always bleed a normal amount when cut and Am worried about putting something into my body if its not absolutely necessary. I am just curious if anyone else feels that the injections might be a bit much or am I being silly and should just do as the dr says? Also what type of Dr. would be best to get a 2nd opinion from on the subject??

    • Dr Ben November 26, 2011 at 7:35 am # Reply

      Jill –

      Being homozygous MTHFR A1298C sets you up more for reduced nitric oxide which causes a lack of blood flow – potentially – to your developing child. There is also the issue of elevated ammonia levels in those with homozygous A1298C. I highly recommend your doctor test your ammonia levels.

      It is more the C677T MTHFR mutation that is known for the blood clotting issue – not the A1298C. HOWEVER, let it be known that the reduced nitric oxide production in those with A1298C is a risk factor.

      Instead of heparin, perhaps methods to increase nitric oxide are more appropriate – such as L-arginine? Talk with your doctor about this – I am not prescribing it or suggesting you stop heparin or the baby aspirin. I rather am pointing out my reasoning.
      L-arginine is a known vasodilator and so is niacin.

      Sugar reduces the production of nitric oxide as well – so keep that to a minimum.

      You should also not be taking folic acid. You should be taking Methylfolate or L-5-MTHF – definitely NOT folic acid.

      If you switch to the L-5-MTHF, start low and work up. Those with A1298C MTHFR mutations may be sensitive to methylfolate and methylcobalmin.

      Keep me posted – please!

  7. Ashley December 13, 2011 at 11:45 pm # Reply

    I had a miscarriage at 9 weeks in 2007. Had a wonderful pregnancy and beautiful baby in 2008. We have been ttc since August of 2010. I miscarried very early in September 2010 and then again in Jan. 2001 at 9 weeks. I was diagnosed with compound heterozygous MTHFR. I was told to take baby aspirin and folic acid supplements. I was also told they they don’t believe this is what is causing my miscarriages. I took progesterone with my last pregnancy as well. We have now been ttc for 11 months (with no pregnancies). I have had 2 months where my cycle went to 35 days (I had been using OPK) and know I should have started around 28-29 days. It never took more than 3 months to conceive with the other pregnancies. I just turned 33 this month. I have scheduled a consultation to discuss the next steps with my Dr. in Jan. Do you have any suggestions for me to take to this appt? Please and thank you!

    • Dr Ben December 14, 2011 at 12:34 am # Reply

      Ashley –

      We’re you on birth control? These deplete folic acid.

      Compound heterozygous can be a contributor to miscarriages or inability to conceive due to low methylfolate levels along with potential toxicity elevation. Toxicity elevation is likely in those with compound heterozygous because of low methylation and low glutathione.

      Some suggestions to consider right now:
      Taking folic acid is not effective. You have to take methylfolate.

      I recommend trying HomocysteX - you may find success with this – read the review there and you may be pleasantly surprised ;)

      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. There is a lot of research backing the use of probiotics in pregnancy – countless benefits.

      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 A1298C and C677T. Consider 1 capsule daily with any meal. The form of CoQ10 must be quality otherwise it is not well absorbed and becomes worthless.

      • Ashley December 14, 2011 at 3:02 pm # Reply

        Than you for the information. I have been on birth control in my younger years but not in several years. All pregnancies were planned. Can you recommend how to find a Dr. In my area that is versed in MTHFR. Thank you.

  8. Helen December 20, 2011 at 5:29 am # Reply

    Hi Dr. Ben,

    I am 33, and I have been tryTTC for over 10 years. I have been married for over 12 years, and I have only been on BC for one month of my life – the first month of our marriage. I stopped taking it because it made my heart race more than it “naturally” does (I say naturally for lack of a better term and that’s what I’ve been diagnoseed when I’m tested by doctors).

    After trying for a little over two years, we conceived while taking Clomid. It was our third round of clomid and would be the last as I could see myself acting crazy (which was also confirmed by my husband). I miscarried at 16 weeks. I started bleeding around 14 weeks, but was told to just take it easy. After we lost the baby, we were told the baby likely died at 12 weeks. We tried for almost two more years. Six months after laproscopic surgery to remove mild endometriosis, we conceived our son and had a successful pregnancy with few bumps in the road…with the help of progesterone (hospitalization at 30 weeks for an unknown reason, I was told I was dehydrated and likely had a virus). Our son came almost 4 weeks early but was healthy.

    Almost two years later, I started to feel “old.” My energy was even more depleted than usual. I have always been able to sleep until awakened, and even then it was a chore to wake up. Well, when my son was about 18 months old and I was too tired to play, I knew something was wrong. So, with a history of Celiac in my family, mostly from the Australian side, I cut out gluten for 3 months and ate more veggies. My husband decided (the 3rd month of my being G-Free) for one month he would only eat vegetables. I wasn’t completely w/out meat, but I ate much less of it because of his wishes (he was training for a marathon). I conceived that month. I didn’t realize I was pregnant at the time, so I tested my G-Free diet by ordering a pizza. I ate it, felt drunk/dizzy/incoherent. I woke up the next day with a rash from the top of my head to the bottom of my feet. It’s the last time I’ve had gluten (except a few bites on special occasions). I miscarried soon after at 6 weeks.

    Fed up, I went to another dr. I was happy with my old doctor, just wondered if I/we were missing something. That’s when I found out I have C677T. I believe I’m heteroz, but, until I found your website, I got mixed info on whether it mattered! It has been two years since I found out. Since then, I have been on aspirin and 4 mg of folic acid; then a year ago, we added Neevo; and now 3 months ago, added Folgard. I have endometriosis again, and had another lapro 1 yr ago. I suspect I’m sensitive to milk, so other than cheese, the only milk I have is raw goat milk in my cup of coffee each morning. We eat out of our organic garden. I have a fairly healthy diet. I’m at a loss at what else to do. I do recognize our child is a miracle and I am so thankful for him. But, knowing that miracles do happen, I would love to have another child. I would also just love to feel healthy, have energy, have normal heartbeats, and live life without always thinking about how to deal w/MTHFR.

    I am submitting my LONG history with the hope, as you mentioned, it might help you in your research as well. Some other history that is interesting, one of my brothers has been having mild “heart attacks.” My mother has been tested and also has hetero C677T. She has had thyroid cancer, has a fibroid tumor, fibroids, and yet managed to get pregnant 7 times. She lost two children right after birth. She is type A- blood, I am type A+. So far, everyone I know with a mutation has type A blood. Is there a link between blood types and MTHFR mutations? How can some with the mutation have so many successful pregnancies while others struggle?

    Also, a friend w/same mutation found a doctor in Fort Worth who, when she was ready to conceive, has her take heparin shots upon ovulation. My doctor won’t try this, she says it’s too risky and could cause a brain bleed. This friend now has 3 children. Have you ever heard of this protocol? Is it dangerous or helpful, being that the mutation causes us to clot easily?

    I could go on and on about what drs have suggested for us to do/take to conceive. We’ve even been told to take Mucinex to thin our mucus (mine and husbands). Can you help us sort out the good information from the bad?

    Thank you for your time and committment to MTHFR!
    Helen

    • Dr Ben December 20, 2011 at 8:29 am # Reply

      Helen –

      Powerful story.

      Thank you for sharing.

      There is a lot that one can do to have a healthy little baby if the MTHFR is addressed properly along with the other issues that are present – such as endometriosis, celiac and so on.

      A heterozygous C677T mthfr mutation can be serious for a celiac because these individuals are typically low in nutrients from the get go – especially vitamin B12.

      I am working on sorting out the bad information from the good. Before I make any videos (already planning many for MTHFR), I am making damned sure my information is rock solid as I don’t want any more misinformation out there.

      I make mistakes – we all do – but in topics like MTHFR – or in health – I do my absolute best to confirm, check and confirm again that my information is sound before sharing it with you all.

      I don’t know if type A is related to MTHFR – I doubt it.

      I highly recommend a consult as I have yet to make the video information available. My consults are booked out until 2012 and are available on a first come first serve basis.

      I would love the opportunity to help you get the information you need to increase your chances of having a healthy child.

      If interested, please call 800-547-9812 to speak with Jatone or Brandon and they will set you up with a consult.

      In the meantime, have an excellent holiday!

      Best
      Dr Ben

  9. Tricia Tice December 25, 2011 at 10:59 pm # Reply

    Love your bio! I wonder if the ability to enjoy and learn about such a wide range of things is a benefit of this particular issue–I can definately relate!

    I was also diagnosed last year with heterozygous C677T. I had 6 miscarriages and my second child, a beautiful little girl, has Down syndrome. That, the lifelong depression and the miscarriages were the obvious impacts, though having a sister with Spina Bifida Occulta and a cousin who gave birth to a child with DS should have been a dead giveaway. During the time we were having miscarriages over 10 years ago, the doctor noted the single C677T mutation but didn’t even mention it. Both of my kids were baby aspirin babies. We almost lost Katie at 8 weeks gestation. We had a bleed immediately adjacent to the attachment that would have caused a miscarriage if it had been even a few millimeters larger.

    Interestingly enough, my son had an issue starting about 3 years old when he flipped from being a very focused, alert child, to a wild animal. At 2, I could stop him dead in his tracks with a single word nearly 100 feet away and he would sweetly return to me and tell me he loved me, in full sentences. By 4, he never stopped moving and would forget instructions given to him within less than 10 seconds. My pediatrician watched him running like a caged animal in our 4 year old visit and said, “We know what this is, but I’m not ready to medicate a 4 year old…” Two years later, on a whim, we tested his sleep and found his oxygen saturation bottomed out at 86% overnight with an average of about 92%–not good, but there was no obvious cause. Asthma meds helped–he could actually remember instructions for as much as 10 or 15 minutes. Miracle of all miracles, we could actually do a grocery store run without him running everywhere, out of control. The most frightening part of all of this was that he had this terrified look behind his eyes that cried out, “Mommy, I can’t stop myself! Help me!!!” At his 3 month followup, we tested did a full brain scan during the sleep study and found he was having “seizure like activity” almost all night and he would stop breathing during the episodes. After a trip to the neurologist, we identified it as a form of “central apnea,” breathing stopped due to brain issues, and they asked me if I wanted to start discussing anti-seizure meds.

    Instead, we did brain therapy (neurobiofeedback) for the next 3 months. What they told me at evaluation recap broke my heart. His frontal lobe was advanced beyond his years–my 6 year old had the frontal lobe maturity of an adult–but the rest of his brain, particularly the left occipital/parietal region, was horribly undeveloped–the same area where the seizures had been found. In other words, he had been trying everything within his power to control his behavior but the impulses were coming so fast, even adult impulse control couldn’t make it better. At the end of the therapy, they were able to remedy the seizure issue, but the neurodevelopmentalist told us that the news was not all good. PJ’s brain scans showed lots of short frequency waves, but no long frequency, sustained wave patterns. Essentially, the nerves themselves were depolarizing (losing their charge) too quickly and that kept him from developing any brain wave patterns that took time to process. He would literally forget what he was thinking about if it took too much time to take it in or think about it. Classroom behavior was a nightmare. This issue caused ADHD like symptoms, but was, in fact, the opposite of ADHD. Instead of his brain being hypo-active like most kids with ADHD, his brain only had one speed–fast. Information that came in rapid fire stuck. Anything else bounced off as if it never got in–because it never did. They told us this was often the result of heavy metal toxicity, but PJ’s chelation challenge showed very little toxicity at all–a small amout of tin, but wnl otherwise.

    That was several years ago. We’ve used an enzyme for gluten (we found gluten in his urine) and that has helped, and he takes Deplin like I do (I also take Metanx to round out the profile–and my mood). Without the deplin, my 11 year old goes in and out of clinical depression, including suicidal thoughts that manifested as early as 4 years old. His Hcy is also wnl as long as he stays on the Deplin. It may even be a little low: his nose-bleeds are pretty amazing. I haven’t followed up on any additional chelation, though it is possible that the chelation challenge test didn’t bring anything up because it wouldn’t let go yet. Chelation has its own risks. It’s interesting that you mention the inability to eliminate heavy metals being tied to the C677T mutation.

    I will be eager to look through the rest of your website to see what we can do to deal with this going forward. I’d love to have your thoughts…

    • Dr Ben December 28, 2011 at 8:39 am # Reply

      Hi Tricia –

      Thank you for sharing your story and your son’s.

      Heavy metals can definitely cause neurological issues. It is difficult to get heavy metals out of the brain – but possible.

      Have you done a SPECT scan on him? Could be useful.

      I would like to see him tested for:
      Amino Acid levels
      Organix profile

      Keep him off of dairy and gluten – both.

      There are certain nutrients you can give him – beyond Deplin. Too much Deplin can be counterproductive for him. You may check his dose or consider changing it to Metanx.

      He needs to be on a:
      – children’s multivitamin
      – fish oil capsule – or Krill oil
      – vitamin D
      – probiotic
      – liver support/NAC
      – MTHFR support – like Deplin, HomocysteX, MetanX, etc

      Many of these nutrients may be found in the MTHFR category but learning more about him is likely needed prior to him just starting these things.

      Many times a provoked heavy metal test won’t show anything if he is blocked from getting them out in the first place – as you pointed out. His body has to be prepared for the test and then redone.

      I’ve just recently brought in a product dedicated to brain inflammation as I am seeing it too often in those with MTHFR. It may or may not provide results but the formulation is designed specifically to reduce neurological inflammation and reduce oxidation of brain cells. It is called Optimal Brain.

      Too much Deplin may be making him go 900 miles an hour also – as it creates so much Glutamate which is an excitatory neurotransmitter.

      Perhaps offsetting that with GABA and L-Theanine along with finding the optimum amount of Deplin or switching him to MetanX.

      • Helen December 28, 2011 at 5:51 pm # Reply

        Hi Dr. Ben,

        Hope this post finds you and your family well and enjoying the holidays!

        After spending time with the extended family over Christmas, we all discussed our ailments after I brought up your website. My mom, as mentioned in a previous post, was recently put on MetanX for compound heterozygous MTHFR (she also seems to recall that when I was diagnosed 2.5 years ago that I was compound too? I’ll have to check my dr’s records). She said MetanX has helped her with her fatigue…she no longer has to take daily naps; at most, weekly. What is MetanX? I noticed it in Tricia’s post as well. Do you suggest Metanx or Homocystex?

        Thank you for ALL your help! Love your profile – my mum is from Oz (Toowoomba). Love reading about your Jackaroo days!

        Helen

        • Dr Ben December 28, 2011 at 11:08 pm # Reply

          Hi Helen –

          Toowoomba – love the Aboriginal names – lot of character in them!

          MetanX is a prescription-only compound containing methylfolate, methylcobalamin and active B6. It is a great formula. It is in tablet form and does contain some additives.

          HomocysteX is over the counter containing methylfolate, methylcobalamin, active B6, active B2 and TMG. These additional three nutrients are useful to further support the MTHFR enzyme and provide additional methylation support. HomocysteX is in vegetarian capsule form and is free of any additives.

          • Helen January 4, 2012 at 2:55 am #

            Hi Dr. Ben,

            Thank you so much for all of your answers. I have set up a phone appt w/you on the 10th. In the meantime, I called my OBGYN to have my records sent as I was wondering whether I was compound, homoz, heteroz, etc. I am actually homozyg for c677t (had been told hetero) w/low homocysteine. I just ordered homocystex, flowfx, liquid vitamin d3, and niacin. Should I change any of these supplements (they arrive tomorrow)? Also, we’re taking your advice and having my husband (and likely our son) tested! Now if I could only convince my 4 stubborn brothers…
            Helen

  10. Kelly H January 11, 2012 at 7:27 pm # Reply

    Dr. Ben,

    I miscarried last August at 9 weeks when a routine ultrasound showed no heartbeat. While waiting for my next cycle, I found out I was pregnant again in November, but was rushed to the hospital for emergency surgery a few days later as the pregnancy was ectopic and ruptured. I lost my left tube.

    My RE ordered many blood tests including a thrombophelia panel and a check for APAs. The only thing found was one copy of MTHFR mutation, which my doc says is fairly common and doesn’t usually cause problems. He ordered my homocysteine levels to be checked anyway and they were normal. Now he says I will be fine if I just make sure to take extra folic acid.

    From researching this myself, it seems like he should be doing more. I would love to hear your thoughts. Thank you.

    • Dr Ben January 12, 2012 at 8:23 am # Reply

      Hi Kelly –

      Which mutation you have? 677 or 1298?

      In terms of women and pregnancy, my feeling is they should be doing as much as possible to make the healthiest child they can. You have one shot at it and they have a life to live based on our decisions as parents. The decisions we make now also affect their future children and your grandchildren.

      Folic acid is literally garbage for those with MTHFR. WORTHLESS and I am sick of doctors recommending it. Don’t they read research??

      Your progesterone levels need to be monitored closely along with your thyroid. Make them do this.

      I’ll get back to you with more information when I find out which mutation you have – and I hope to have an article written tomorrow with more information as well.

  11. Toni February 5, 2012 at 6:09 pm # Reply

    two mc post two healthy pregnancies. two good pregnancies had aspirin taken during first trimester “just in case” b/c I had heard some people have clotting issues and I knew it was safe in early preg. while ttc#3 was not as compliant about taking aspirin or pre-natal vitamin. first m/c was tested as 46xx normal baby girl, 2 m/c was blighted ovum. Demanded fertility doc to test for MTHFR et al after 2nd mc bc I kne the standard was 3 mc before special testing (ridiculous protocol) Came up homozygous for 1298, with normal/low hcy. Was told that this was not something that would effect pregnancy, which I do not believe. No longer ttc#3 b/c I am 41 and my two kids have special issues (one Asperger’s, one ADHD w/ seizures) which I do believe are attributable to low methylation. We have used holisticheal.com to test their SNPs and they each have 13, and not all the same ones. Both however are compound hetero (meaning heterozygous for both 677 and 1298) and I believe 23andme shows my husband/their father as homzygous for 677 (has is overweight, inflamed liver, many health issues, joint problems, and not currently following any diet/supp regimen) My kids and I are GF and eat mostly clean diets with a few SAD infractions. We do numerous supps most of which are just standard vitamin/mineral at therapeutic (not RDA) levels.

    If my children were vaccine damaged at all, I believe it would have been flu vax I received while preg with my first, and I received another flu vax while b/f her and right before the other child was conceived, and then I recv’d another flu vax while b/f him. I was cautious abt most vax (slower than scheduled) but unfortunately I always gave tylenol with each vaccine (lowers glutathione) and I believed that flu was very dangerous for infants and so wanted to prevent that. My Aspie has always been over-sensitive to sound.

    My Asperger’s daughter (7) also has autoimmune thyroiditis.

    I mention the vaccine thing bc of the two intersecting themes of my comment(methylation and autism) I am not anti-vaccine perse but rather anti-garbage (in the vaccines) and if the vaccines cannot work without the adjuvant of aluminum, perhaps we need to do something abt that (change the dosing schedule, check for SNPs prior to vaccination, find a less harmful adjuvant?)

    Thank you for making the public aware of MTHFR Dr. Lynch.

    Do you have the SNP panel available thru somewhere other than holisticheal.com yet? My kids were tested but I have not been. My husband was tested under 23andme and I don’t know how to read all the data to compare the SNPs.

    Also do you know of a company testing for SNPs *and* APOE variants all in the same test? This would be great for families like mine who seem to be prone to Alzheimers and Arthritis and CFS.

    THANKS!

  12. Keran February 6, 2012 at 8:38 pm # Reply

    Thank you for the informative web site.

    I recently had testing done and had a homocysteine level 5.6 umol/L and was found to be heterozygous for a1298c. I have had many miscarriages.

    Here is a little more detail: I got pregnant with my son the first cycle we tried at age 37. He is healthy and wonderful. Since then we have been trying on and off over the years, probably about 4 years total of trying. We seem to get me pregnant easily, but they don’t stick. I have had 6 positive pregnancy tests in that time. 3 of those pregnancies have lasted well into the first trimester, one into the second trimester, but I know that growth had stopped at 8.5 weeks. All three of those showed abnormal growth on ultrasounds. I have had numerous other pregnancies that I believe were chemical pregnancies because of the symptoms I have had and the kinds of bleeding. I am now almost 45. I still have great FSH and estradiol numbers. Progesterone does not seem to be an issue. I have a healthy diet and lifestyle, and have been doing Traditional Chinese Medicine for three years. I know I’m an “older mama,” but even for my age, my success rate seems low.

    The doctor who ordered these tests thinks that because I am heterozygous for the mutation, that is not causing a problem. She suggests I take baby aspirin and folic acid because of the repeat miscarriages. If I’m understanding this, it would be better to take folate. I switched to Thorne Prenatal vitamins recently, but am thinking this might not be enough–especially because I don’t usually take a full dose. I don’t know if you are able to recommend a B vitamin on this little information, but if so I would appreciate greatly it and am happy to answer questions to help with your research.

  13. Emily February 25, 2012 at 3:05 am # Reply

    Dr. Ben –

    How often should folks have their homocystine levels be checked (while being treated for MTHFR mutations)? At the time I found out I was homozygous C677T about a year and a half ago my homocystine level was 7.4 which they say was fine. I’ve not been tested since. I don’t think I’ve ever had my s-adenosylhomocysteine level checked.

    Thanks,
    Emily

    • Dr Ben February 25, 2012 at 7:32 am # Reply

      Emily –

      7.4 is a bit elevated – not much. It is in the normal range but Dr Rawlins says he sees people doing better when homocysteine is about 6.5 or so.

      Next time you go in for routine blood work, add on homocysteine to it.

      SAH is something to consider if you are not improving but I am finding it not very reliable to test for. I have never seen it elevated – not yet anyhow.

  14. sarah March 11, 2012 at 5:55 am # Reply

    Hi, I wanted to answer the question of 1 copy MTHFR and miscarriage and NO other factors. My younger sister has 1 copy c677T and NO other factors. She has had 2 miscarriages now. The 2nd she even started the MTHFR “protocol” of Heparin, Baby ASA, Neevo, Folic Acid. It’s so heartbreaking to me for my sister’s losses. I have been blessed with 3 pregnancies and 3 deliveries. They weren’t easy ones by any means, but I still had healthy children in the end. I have 1 copy C677T and Protein S Def. I found out at 26wks with my 3rd child. My sister had a SAB at 13wks so I was tested d/t my current pregnancy(at that time) I worked at an OB office for almost 9yrs and I was lucky enough to work for a GREAT Dr who did believe in these factors and pregnancy loss. We tested many patients for this and I can say, we have had alot of 1 copy mutations and no other factors and RPL. We have had (sadly) stillbirths at 33wks, 36wks on women who didn’t know at that time they had the mutation. They had Placental Abruptions causing the Stillbirth. I could go on and on too. I have made MTHFR a passion since it “hit home” for my family and I.

    • Dr Ben March 12, 2012 at 5:15 pm # Reply

      Sarah –

      Thank you for sharing your experiences. I would love to have an article by you here at http://www.MTHFR.Net for all to read.

      If you would like to do this, please write an article on MTHFR – any aspect you like – and send it to me via the Contact Dr Lynch page.

      Include a ‘About the Author’ paragraph and I will include that as well.

      Readers here will definitely enjoy reading about your experiences – and you may help a lot of families.

      Thank you ;)

    • Lynn_M May 3, 2012 at 7:17 pm # Reply

      Sarah,

      The “MTHFR protocol” does not include folic acid. Rather, it means stopping any supplements that have folic acid in them, and taking the active form of folate which is L-5-MTHF (L-5-methyltetrahydrofolate), 5-MTHF, or Metafolin.

  15. Joanne March 12, 2012 at 4:19 pm # Reply

    Hi. I am freaking out a ltitle. I do not have a MTHFR diagnosis yet but my doc (and ND) just attended a conference last weekend and learned a lot about MTHFR and thinks I may have some form of a mutation. We are doing a blood test this week.

    Her gut feeling is based on this:
    1) I have a beautiful 4.5 year son who has 3 midline defects, asthma, food allergies, and autism. He’s doing great but clearly his body is struggling.

    2) I had a miscarriage at 5ish weeks a few months before conceiving my son. This would’ve been my first pregnancy. So my son was my second.

    3) I have some midline defects so thinking there is a history in my family.

    4) I have had issues with anxiety and depression at times in my life.

    Also, my doc did not mention this but in reading your articles, I see that high serum folate levels can point to this and my last serum folate level was last summer and it was 20.4. Of course, it was not flagged as high or a problem at the time. My B12 was also high. I have been taking prenatals since being pregnantw ith my son as he still nurses. And I alsways took an extra B-complex. So basically, I probalbly have way too much fo the bad kind of folic acid in my body.

    And here is the part that is freaking me out. After spending a long time thinking we would not have another child as our son needed so much attention, we recently decided we were ready and tried to conceive. Just this month, A FEW DAYS BEFORE my doc contacted me about the MTHFR. I am 7DPO and do not know yet if it was a successful try. But I am FREAKING OUT. I have started on a 1 mg 5-MTHF supplement (3rd day on it in today) and I am feeling sure that if I am pregnant that it is all doomed.

    What should I do? What should I ask my doctor to check for and what supplments should I talk to her about? If I am pregnant is there any hope for this baby?

    Thanks for any advice.

    • Dr Ben March 12, 2012 at 5:24 pm # Reply

      Hi Joanne –

      Please call your doctor as they may have a plan of action for you.

      I recommend taking additional methylcobalamin (active B12) along with methylfolate. If you only take methylfolate and do not have enough methylcobalamin on board, then the methylfolate will not be able to do anything – it will get ‘trapped’.

      Please read this article on Prenatal Supplementation for MTHFR.

      Now that you have started on 1 mg of methylfolate, your doctor is educated about MTHFR and you are going to read the Prenatal Supplementation for MTHFR, you have significantly increased the odds of having a healthier pregnancy.

      Please do be as calm as possible as stress/anxiety are not healthy during pregnancy. Talk with your doctor about taking Ashwagandha to help calm your nerves – or taking something like Nerve Tonic by Hyland’s.

      I am glad to hear that your doctor is versed in MTHFR.

      May I ask who your ND is? I would like to list them on the Find a Doctor page.

      Keep me posted.

      • Joanne March 12, 2012 at 9:14 pm # Reply

        Dr Ben, thanks for your fast response. I am much calmer now. I just had my blood test and should know by the end of the week if I have MTHFR. I also asked my doctor to check my homocysteine levels and recheck my serum folate and B12. I asked about the SAH level too but they did not seem to know what I was talking about so I may have to make do with just a regular homocysteine level for now.

        Thanks for the link to the Prenatal page. Very helpful. I will definitely talk to my doctor about all the information there. And I am going to look into the active form of B12 ASAP.

        I just took some Nerve Tonic (which we always have on hand). :)

        My doctor has only just started learning about MTHFR so I am not sure if she would consider herself well versed yet. She heard about it at a ped conference she was at last weekend and it clicked in her head because of my son’s health issues and the fact that I had (ironically) just gotten the green light health-wise from her to go ahead and try to get pregnant. She only talked to me about getting the 5-MTHF form of folic acid but nothing about active B12 or any of the other things I have read online about possible blood clotting issues and so on. I am sure she is going to learn a lot about it now. She’s great, though.

        • Dr Ben March 12, 2012 at 9:39 pm # Reply

          Joanne –

          Sounds good. Glad you are feeling better :) Nerve Tonic is great stuff!

          I greatly caution you and your doctor to GRADUALLY work up on methylfolate. If you don’t, your son may worsen and you may as well. The side effects caused by methylfolate are not fun.

          • Joanne March 12, 2012 at 10:43 pm #

            Dr Ben,

            Is my taking 1mg right now okay or do I need to work up to the 1 mg? I have only be taking the 1 mg for a few days.

            We are not starting my son on it until we get a blood work up done. And I think I may actually take him to a biomedical doctor use to working with kids with autism and well versed on MTHFR. I love my doctor but with my son, I want to be really careful. He is doing wonderfully right now making huge gains with his SLP, OT, osteopathy, and homeopathy and I do not want to rock the boat.

          • Dr Ben March 12, 2012 at 11:18 pm #

            If you feel fine and not experiencing side effects on the 1 mg of methylfolate – you are ok.

            Many doctors – versed or not in MTHFR – tend to overdo the methylfolate or folinic acid. Make sure to inquire how they deal with MTHFR.

            I am currently speaking at three medical conferences this year on MTHFR – and more in the works. Docs need to learn to be careful…

          • Joanne March 13, 2012 at 12:19 am #

            (I don’t seem to be able to post a reply to your very last comment so I am replying again here.)

            I don’t *think* I am having an side effects. But I have been having a sort of car sick feeling off and on the last few days. Of course, this was my main early pregnancy sign when I was pregnant with my son so I had thought it might mean I was pregnant.

            This is going to be really difficult. How will I know if a symptom is because I might be pregnant (or if I end up actually being pregnant) and what is a side effect of too fast an increase in 5-MTHF? WIll too fast an increase hurt me or a possible pregnancy?

            I am finding this so frustrating. If only I had gotten my doctor’s message two days earlier this would all be simple because I could have worked this all out BEFORE getting pregnant. Now I have to try to balance all this with the safety and thoughts of a potential pregnancy.

            I am working on not being too stressed but it really is a less than optimal situation and really takes away from what should be a joyful thing. I hope you really get the word out about this so all people can be screened long before they ever reach this situation.

          • Dr Ben March 13, 2012 at 5:19 am #

            Joanne –

            Which MTHFR mutation you have? C677T?

            If you feel nauseated – that may be a side effect. You can tell by taking some niacin in the form of nicotinic acid – 50 mg. If the nausea goes away, it is due to the methylfolate. You can also stop the methylfolate for a day and see if it goes away.

            Too much methylfolate has not been shown to be harmful in pregnancy – but I don’t recommend it. No more than 4 mg unless indicated by lab work or symptoms needing more improvement.

            I am joyous that you actually know you have MTHFR now. It is WAY better knowing now than 32 weeks into it! :)

          • Joanne March 13, 2012 at 2:00 pm #

            We don’t know yet if I have the mutation. That is what is so maddening. We have to currently operate on the assumption I have the mutation AND the assumption that I am pregnant (I won’t be able to test for pregnancy until late next week).

            I had a blood draw yesterday to test for the MTHFR and should know by the end of the week. But I think we will all be rather shocked if I don’t have the mutation based on my health history (2 midline defects, anxiety, depression), my family’s history (maternal side – lots of cardiovascular stuff), and my son’s health issues (3 midline defects, life-threatening food allergies, autism).

            About the possible side effects of increasing too quickly: I currently am having an on and off again slight car sick feeling. I just realized I first had a fleeting moment of it the day BEFORE I started taking the 1mg 5-MTHF. So I am thinking maybe not a side effect? Still, that would be too early for pregnancy so I am unsure.

            BUT if it is a side effect, it is not hurting the possible baby, right? So if I can manage it, would it be better to stay on the 1 mg of 5-MTHF so the possible baby has the best chance of getting the methyfolate it needs for it’s neural tube development?

            Already having a special needs (and very high needs) kid I really want to do what I can to give this possible baby the best chance for optimal development.

  16. Toni March 13, 2012 at 2:11 pm # Reply

    If you want to give your potential baby the best environment ever, take some deep breaths and try to relax. The stress hormones you are creating are not good for you or a developing baby. I am homozygous for 1298, my kids are compound hetero. I didn’t find out about my MTHFR till after the two kids and after two miscarriages (the third and fourth pregnancies were the m/c) What must have helped me was the little bit extra folate and the baby aspirin I was taking “just in case” b/c I had heard some people’s clotting caused them to m/c.

    • Joanne March 13, 2012 at 2:53 pm # Reply

      Thanks, Toni! You are absolutely right. And believe it or not I really am trying to stay calm. It helps me to write out things and to come up with the best plan.

      More than anything I am just frustrated. It took us so long to decide to try to have another and for a long time we were decided to definitely not have another (which was a very sad place to be). And finally, when we chose hope and joy and I really try to overcome my admittedly more negative thinking tendancies, I feel like we just get socked with another stupid thing. Literally, if we had heard from my doctor two days earlier we would have put off the trying to conceive and be able to just address this MTHFR thing in a completely stress-free way. And it just feels like this is how things always happen for us. I know that is not helpful thinking and I am really trying to let go of it. It is just hard. I love my little son so much and want the best for him and a stress-free pregnancy and a sibling with the least amount of developmental issues would be best for him too.

      • Toni March 13, 2012 at 4:25 pm # Reply

        I totally get it. My two are spectrumy. First born has sensory processing disorder, anxiety and asperger’s (the first two just go along with asperger’s but those were the order she was dx’d) And my son has a seizure disorder and maybe asperger’s, but def the other two (spd and anxiety) and ADHD. We treat everything naturally (lots of vitamins)

        We were ttc#3, had the two m/cs, found out abt MTHFR, a few months later got the official ASD dx, and just decided with two kids having special needs, we just needed to count our blessings and quit while we were ahead.

        Good luck. I am sure everything will turn out fine. Child #2 is a handful here but the best thing that could have happened to the first kid ;-) He is like built-into the family therapy for learning how to deal with “annoying.” Hahah. :)

        • Joanne March 13, 2012 at 6:48 pm # Reply

          I am hoping for that for us, that a sib could be the best thing for my son! I know it will be hard and a big adjustment. But I feel it could be great too.

          Sorry for your losses! That is hard. Glad you figured out what to do for your family even if it was a hard decision. It took us so long to decide what to do. But I feel good about it overall, even with this lastest hiccup.

          My son has SPD too! And verbal apraxia, although with a fantastic SLP he’s now talking up a storm. Just in the last two weeks he has started asking questions constantly. It’s great.

          For all the struggles he’s had health-wise and developmentally, he’s still so full of joy and light. We’ve been treasting him naturally too. Osteopathy, homeopathy and naturopathy so far. And speech therapy and OT too.

    • Breanna March 13, 2012 at 7:17 pm # Reply

      Dr. Ben,
      I really need help, im 19 and I just lost my daughter on January 25th of this year i was 23 weeks and 4 days along she was my first born, pathology came back said there was chorioamnonitis and infarct, my doctor told me that the infract was cause there looked like there was a spot in the placenta that blood flow stopped going to and that the chorioamnonitis might have been cause by how quick and soon labor came plus in the previous ultrasound on Jan. 2 2012 there was no inflamation at all and pthology said it was in the early stage. she was alive all the way up to when she got stuck during the birthing. anyways they took a blood draw and said that my homocysteine levels were off and something about heterogenus MTHFR mutation. I have an appointment this month to see someone in hemotology. and im scared about what they are going to say whether it was because she got stuck that she passed or if it was because of this condition or both. and i was wondering if itry again how will affect both the baby and i and how can i keep these levels down so that this next baby will have a real chance at life??

  17. Anthony March 17, 2012 at 12:27 am # Reply

    You mentioned above “Homocysteine-lowering vitamins do not lower plasma S-adenosylhomocysteine in older people with elevated homocysteine concentrations.”

    Thanks for all your input. Do you know what lowers S-adenosylhomocysteine in older adults? How about younger adults and children? Do B12, B6 and/or B9 mkae a difference in elevated S-adenosylhomocysteine?

  18. mary braud March 21, 2012 at 12:16 am # Reply

    Dr Ben,
    Can you give me any advice regarding a male patient with severe depression and anxiety, a past diagnosis of Bipolar Disorder who I just found to have a homocysteine level of 4. I don’t know what my next step should be. I think this may be playing a role in his illness and want to investigate further
    Mary Braud, MD

    • Dr Ben March 21, 2012 at 1:06 am # Reply

      Dr Braud –

      MTHFR may be playing a role here – the A1298C form especially. I recommend testing for both MTHFR variants.

      The lower homocysteine may be due to supplements he is taking or a possible CBS mutation which is draining methyl groups – or he is supplementing with high dose vitamin B6 as P5P.

      Bipolar is linked to excessive glutamate levels – quite a few various research articles on this.

      Testing for 24 hr urinary amino acids is also likely useful. Doctor’s Data provides useful urinary amino acid results typically.

      Evaluating histamine levels are useful as a marker of methylation.

      CoQ10 as ubiquinol 1 gram, nicotinic acid 50 mg to start and work up to 500 mg BID if tolerated, EPA/DHA 5 grams, Ashwagandha, Magnesium, NAC, Tryptophan

      Niacin helps lower glutamic acid levels.

      Reduce glutamic acid in the diet:
      – wheat
      – dairy
      – soy
      – egg

      Few things:
      – evaluate diet. Eating every couple hours with some form of protein?
      – caffeine intake

      Need to be careful with folate and methylfolate in those with bipolar as it can increase mania – due to increased neurotransmitter production; however, adding in niacin as nicotinic acid can help reduce the manic episodes.

      Hope that helps -

  19. Lucina Botond May 2, 2012 at 7:29 pm # Reply

    Dr. Ben,
    My 12 year old son has a heterozygous double mutuation and a very low homocysteine level. His homocysteine is only a 4.2. I am told that this is dangerously low and signifies a neuro immune syndrome where his T cells are are suppressed. If this is the case, what can be done to help? I suppose it’s still a basic methylation issue, with a need for the proper dose of folate and B-12. Anything else that could help increase T-cells? He has chronic lyme and other infections and just can’t seem to get well.
    Lucina

  20. Kelly June 1, 2012 at 7:15 pm # Reply

    I just tested compound heterozygous MTHFR based on my own hunch after finding this website. I asked my doctor for the test and she ordered it. I’ve had 3 miscarriages after having a healthy baby with my first pregnancy–I did have another healthy baby after miscarriage #2. I was hitting 40, so age wasn’t on my side. I was diagnosed with fibromyalgia after the birth of my 1st child. Last year, I took cymbalta for 4 mos and it was just about the end of me mentally and physically–I was so very sick and it has taken me 9 mos to get to where I was before that. I’ve found out that I have many issues including chronic lyme, heavy metal toxicity, hormone deficiencies, suspected yeast issues. I’ve done lots of research and digging and I’ve just done lots of tests and still awaiting results on some. I did find out that I have low histamine–which I was expecting to be high–and histidine is not low–so that doesn’t make sense to me. Also, after 10 wks of chelation w/DMSA, my metals got much worse. I’ve recently started the Seeking Health multi and sublingual MTHF and B12 along w/P5P sublingual. I’m doing all I can in sublinguals because the abx I was on for lyme wrecked my GI tract–I’ve been off them for a couple of months and finally getting my digestion straight–I’m only taking herbals for the lyme. I’m waiting for pyroluria results and genetic test for add’l SNP’s. Now I need to find a naturopath to help me all of this together–like the low histamine??? My doc is great and orders tests because I ask and she knows that I’ve researched it but she doesn’t have a good understanding of what it all means. I live in SW VA but would be willing to travel a few hours if someone has a recommendation. I finally feel like I’m getting to the real core problem of my health issues.

  21. Michelle June 6, 2012 at 6:12 pm # Reply

    I have been diagnosed with single mutation A1298C and have had 2 miscarriages within the past 6 months.

    • Dr Ben June 6, 2012 at 6:25 pm # Reply

      Hi Michelle –

      Please look for other underlying causes for the miscarriage. The single A1298C MTHFR mutation is not that significant – yet the double A1298C MTHFR mutation may be.

      I believe that there are other MTHFR variants out there which have yet to be identified. It is these unknown and ‘hidden’ MTHFR variants (mutations) that may be causing miscarriages.

      This is why I commonly recommend all people to now supplement with methylfolate and methylcobalamin – in order to bypass this potential problem. This is being proactive.

      Supplementing with a tablet of Sublingual Active B12 with Metafolin may be supportive – along with other specific nutrients.

      Please read this article on Prenatal Supplementation.

    • Toni June 6, 2012 at 7:07 pm # Reply

      I had a m/c and a blighted ovum after two healthy kids. We tested and I am homozygous for 1298 which my doctor also called insignificant. I am not sure I 100% believe that. My ptt was slightly elevated. My first two kids were born no issues, but I took aspirin daily with them “just in case” when I had no knowledge of me having MTHFR, just friends with it.

      A couple months after learning about my MTHFR, my daughter was dx’d with ASD, and then I happened to learn of the decreased methylation and risks of toxicity etc. I started focusing on making us all well, and ttc another kid went on hold (for good now.)

      I am also a carrier for hemochromatosis, so that might have factored into my miscarriage too.

      Genetics on the first m/c showed genetically ok/perfect so far as chromosome number. No known reason for the failure to grow, so?? I wasn’t taking aspirin at the time, though. :( With two little ones I couldn’t remember to be 100% compliant with my prenatals and aspirin.

      Best of luck Michelle.

      • Dr Ben June 6, 2012 at 7:27 pm # Reply

        Toni –

        Thank you for sharing your comment.

        I updated my response to Michelle because I was not clear.

        After reading your comment, I realized I didn’t specify that 1 copy of A1298C MTHFR mutations is not that significant – however, 2 copies of A1298C can be.

        1 copy of A1298C MTHFR mutation may become significant if there are other unknown mutations affecting methylation.

  22. Veronica June 18, 2012 at 6:34 pm # Reply

    Dr. Ben,

    Though I do not know for sure if I have any form of the mthfr mutation, I strongly suspect given the signs and symptoms of it that I do. This being said, I’ve suffered from chronic treatment-resistant depression most of my life, have severe adrenal fatigue syndrome, and Candida, have been said to be Vitamin B12 deficient, am gluten-sensitive, and am hypohydrochloric (and therefore likely pyroluric). In addition, it was believed at one time that I could be anemic, hypothyroid, and that I could even have chronic fatigue inmmune dysfunction syndrome. Moreover, I believe, given that I have at least two amalgam fillings and two dental implants that I have heavy metal toxicity from mercury. This all being said, I’m wondering if its most likely the case that I have an mthfr mutation. If so, given the health conditions/ problems I have as listed above, would you recommend that I supplement with 5-mthf? And, if so, at about what dosage would you recommend as being safe but effective that I take of it? I’m already, at the suggestion of one naturopath, taking 1 mg. per day, (have been taking this amount for almost six months now), but believe I very well could need more. If you could please get back to me regarding this, I would greatly appreciate it. Your website has been of immense help to me.

    • Dr Ben June 18, 2012 at 9:26 pm # Reply

      Hi Veronica –

      I always start with digestive function first and then proceed outward from there.

      1 mg of methylfolate is a safe amount to start with and glad you started low.

      I typically do not recommend giving methylfolate without some form of vitamin B12.

      That said, you may want to consider asking your doctor about switching from your 1 mg of methylfolate to 1 sublingual tablet of Sublingual Active B12 with Methylfolate in the AM upon rising and try adding another 1/2 tablet three hours later.

      Getting tested for the MTHFR gene mutation may be wise also – to see if you have it or not.

  23. Vanessa June 19, 2012 at 7:12 pm # Reply

    Hello Dr. Lynch!

    I was just diagnosed with heterozygous MTHFR (I don’t know which type yet) after a miscarriage of my daughter at 16 weeks gestation. I’m 30 and have 3 healthy children, 1 of them with my now-husband who conceived this recent pregnancy that resulted in miscarriage, and 1 ectopic prior to the miscarriage, the previous healthy births were with other fathers, no other miscarriages. Initially my doctor said there wasn’t any indication of cause. I switched clinics, and my new doctor ordered this more in-depth panel, as so many 14-16 week losses are caused by clotting issues. Everything else was negative/normal (Factor V, etc.). I had a small infarction in the placenta, and some nodules present.

    I’ve read your recommendations for prenatal vitamins and supplements, and definitely want to take the better folate supplement and B vitamin versions, as well as the ProBiotics and CoQ10, and I already take a stronger D vitamin as I’ve been chronically low.

    My question is – should I take a general multivitamin in addition to get the other supplements? If so, which one? I’m allergic to fish and shellfish, so I do have to be careful there. I don’t want to overload by doubling up on some, but I don’t want to leave out others altogether.

    Thanks!
    Vanessa

    • Dr Ben June 20, 2012 at 6:18 am # Reply

      Vanessa –

      Your husband needs to test for the same clotting disorders – you read the article I wrote about testing the partner also?

      Read this article in full – especially the beginning and the end.

      If your prenatal is solid and contains a blend of methylfolate and folinic acid, that is great. If not, then you need additional support. The Thorne Prenatal is pretty good and so is the Xymogen Prenatal. I am still working on developing mine – researching a few more ingredients.

      I would say the sublingual Active B12 with Metafolin – taking 1/2 tablet in the AM every other day or daily may be a good addition.

      Baby aspirin and/or Lovenox/Heparin may be also needed due to the infarct found in the placenta.

      You definitely want to be taking EPA/DHA – and work with your doctor on that if you take some blood thinners.

  24. Jennifer June 25, 2012 at 6:12 pm # Reply

    Dr. Ben – I have begun reading on your website, as I have just gotten lab results back that showed a C677T mutation (single mutation). I was tested because of recurrent miscarriages. My question is this: Is this mutation always present from birth – or can you acquire this mutation as you age? You see, I’ve also had 5 healthy pregnancies – 4 of them consecutively without any problem, and the 5th in between 4 losses. I didn’t start having miscarriages until after I was age 36.
    Thanks for your help,
    Jennifer

    • Dr Ben June 25, 2012 at 8:36 pm # Reply

      Jennifer –

      The mutation of MTHFR is present from birth.

      Acquiring the potential problems that the MTHFR mutation may cause may happen immediately at birth or later in life. This depends on other genetics, environmental exposures, lifestyle, supplementation and diet.

      • Jennifer July 7, 2012 at 3:45 pm # Reply

        Thanks, Dr. Ben. I’m scheduled for an appt. with a high-risk doctor b/c of the recurrent pregnancy losses. I asked about the alternative test for homocysteine levels you mentioned in one article that is more sensitive, but they rejected it as being “practically the same” as the homocysteine test. They also rejected my husband being tested for a MTHFR mutation. SOOO, I’m sensing that I will need to tackle this a bit on my own as I work with them. I’m interested in what you would recommend as BASIC first steps for someone like myself who is hoping for another pregnancy and wants to be in the best health possible, given the C677T single mutation. I see some of your recommendations in your articles, but it starts to seem complicated! And it seems that some of these changes need to be monitored via testing – is that correct? I’d like to make sure I’m getting the correct nutrients to give myself the best possible chance at good health and a healthy pregnancy. Thanks so much,
        Jennifer
        p.s. does “single mutation” mean the same thing as “homozygous”? I’m unclear on that terminology, as my lab report did not use the terms homozygous or heterozygous.

        • Lynn_M July 7, 2012 at 7:08 pm # Reply

          Don’t you just love how your high-risk doctor is saving money by rejecting these frivolous tests (not).

          If you’re willing to pay out of pocket, the Vitamin Diagnostics test will measure how well your methylation pathways panel is working. It measures reduced and oxidized glutathione, SAMe, SAH, adenosine, and seven folate derivatives. Dr. Ben offers it here http://www.seekinghealth.com/methylation-pathway-panel-vitamin-diagnostics.html for $325.

          A single mutation of a gene is a heterozygous mutation.

  25. Jennifer June 30, 2012 at 1:33 am # Reply

    Dr. Ben,
    I am 33 years old and have been blessed with 2 children. My daughter was born in 2007 a textbook pregnancy and delivery. My second pregnancy I thought would be the same. I had the myrena removed aug 18, my cycle began the next day. I got pregnant right away. I was very sick during the pregnancies and only gained about 8 lbs. my Ob told me my baby was a little small but it was early so not to worry. My afp came back pos for spina bifida. I was referred to a neonatologist for level 2 ultrasound. Spina bifida ruled out and in his next breath specialist told me our chances of downs jumped from 1:355 to1:27 because my sons femurs and humerus bones were measuring short. My husband and I felt as though we were forced into an amnio. Result, genetically perfect. At this point he was measuring 2 weeks behind. I was told to return in a month for fetal growth monitoring. One month later, we were measuring 3 weeks behind. I was told to return in 3 weeks. I was never advised that my baby was in danger. I was never told that anything was wrong with me, in fact I don’t even think the specialist was looking. I began to experience episodes where I had trouble calming myself down after intense conversations. I would see spots, and I had a full feeling not heartburn. That turned into pain in my upper right quadrant. I was told it was heartburn even after I argued with them.
    Two days later I was in the ERIC. Dx UTI. I took antibiotic over the weekend with no relief by Monday. I called my original Ob and was called into his office. I presented with high bp ewhich is very unusual, my bp is usually a title lower than normal. He ran labs and set up another level 2 us the next day. Ultrasound now showed my baby was over 4 weeks behind in growth. Labs looked like HELLP. I was admitted to the hospital that day Tuesday. I delivered by emergency c on Friday. My liver almost ruptured, I was in renal failure. My son weighed only 401g. He was in the nice 5 months and 5 days. I just obtained my op report and it shows I am pos for heterozygous a1298c. I also have anticardiolipin antibody mid level positive IgG, IgM, and anti phospholipid antibody present. I am not sure what this all means. I have been told if I try for a third child that I would be extremely high risk. In general, I am typically very tired no matter how much sleep I get. I have stomach problems with intense pain followed by diarrhea, I was dx with angioedema in 2002 with no known cause, poss link to food allergy. Help please. I am wondering if all of this is connected and how it could effect my future health? Thank you.

    • Jennifer June 30, 2012 at 1:36 am # Reply

      I should also tell you that my placenta was very small and had a lot of dead spots with no blood flow. My son was barely getting enough nutrition to maintain his size let alone grow. Upon biopsy I was told nothing was wrong with the placenta. It was just very small and shriveled up.

  26. Nicole July 23, 2012 at 2:34 pm # Reply

    Dr. Ben,

    I tested positive for compound heterozygous mutations of MTHFR. Although I tested positive before starting my IVF cycle, nobody at the office ever told me that I tested positive. Even when I called to ask what my test results were, I was told that everything was within ‘normal ranges.’

    I did get pregnant through my IVF cycle and am now 8 weeks 4 days pregnant with fraternal twins. So far, the babies seems to be developing wonderfully, at about the right size and with normal heartrates. This is my first clinical pregnancy – I have had 1-3 chemical pregnancies in the past.

    I only found out about the MTHFR mutations a few days ago when I requested my medical records, so I could send them to my OB. When I asked the clinic about the MTHFR, they said that they were treating it by having me take one baby aspirin per day, plus my prenatal vitamin (which includes 800mcg of folic acid). I also added an additional 1,600 mcg of folic acid (for a total of 2.4mg) when I was approximately 6 weeks pregnant. At 8 weeks, I found out about the MTHFR and convinced them to prescribe me MetaNX (instead of the extra folic acid). So, now I am on a prenatal vitamin, baby aspirin, and MetaNX – no Lovenox or Heparin at this point.

    Apparently they tested my homocysteine level before I got pregnant and it was 7.5 (which they consider normal but which I am reading is not-too-great). I’m not sure if age matters, but I am 30 years old.

    I am wondering a few things…
    – Would you recommend that someone like me be on a blood thinner like lovenox, even though I have not had any clinical miscarriages in the past? When I read about using Lovenox for MTHFR mutations, this seems to only apply to women who have had past miscarriages.
    – Are my chances for a successful pregnancy good since I (1) have had baby aspirin and prenatals from the beginning, and (2) added Metanx at 8 weeks? Or, do you think I added the Metanx too late and problems could have formed in the beginning which will hurt the babies in future weeks?
    – If MTHFR does cause problems, am I most likely to lose one twin or both twins?

    Thank you!

    Nicole

    • Dr Ben July 25, 2012 at 6:36 am # Reply

      Hi Nicole –

      Good for you in pushing your way past the ignorance of the medical profession. It is patients like you that create change and awareness.

      I am glad you are off the extra folic acid and instead taking Metanx. Smart move.

      Your homocysteine of 7.5 is pretty good – and the Metanx will lower that further. You don’t want it too low – I don’t like to see homocysteine lower than 4.5.

      Taking baby aspirin, Metanx and a prenatal is good – but not complete. I highly recommend you read this article on Prenatal Supplementation and MTHFR as to why.

      I recommend you consider adding: fish oil, krill oil, probiotic, coq10 and chew xylitol gum – and drink filtered water and shower in filtered water.

      You have great chances for a healthy pregnancy – absolutely – you are doing many things right –

      MTHFR does cause issues – but you are handling them proactively. I do recommend you consider the Xymogen Prenatal because it has the folinic acid in it as well as the methylfolate. I really like to see some folinic acid in prenatals as it is very supportive of DNA production.

  27. Scott Leeth August 1, 2012 at 10:17 pm # Reply

    My wife is 43. She is slowly dying. Started with severe migraines in pregnancy. Then lots of MDs and lots of meds….then urticaria…then erythromelalgia….now dermal necrosis of her lower legs….on IV morphine 100mg per day. 3 hours of bandage changes per day. Homozygous for A1298C. Homocysteine is low 5.3. Ideas?

    • Dr Ben August 2, 2012 at 9:17 pm # Reply

      Scott –

      Please find a doctor here that is integrative and knowledgeable of treating the cause vs symptoms.

      There are a ton of factors here at play.

      Given her low homocysteine, I’d consider Methionine to help bring it up.

  28. David August 27, 2012 at 9:20 pm # Reply

    More of a question than a comment, but pertaining to miscarriages; I’m MTHFR’d homozygous C677T. If I’m understanding all of this correctly, each of my children are at a minimum heterozygous C677T. Even if my wife is ‘normal’, isn’t the risk for the unborn child just as great? Shouldn’t my wife be treated as if she were ‘mutated’ as the placenta and child would be?

  29. Trisha December 6, 2012 at 2:31 pm # Reply

    Hello,
    I’m 33 and was dx back in 2009 with 2 mutations (one of each) I could not get pregnant and turned to fertility, once I started treatment I was able to get pregnant but to miscarry by 8-9. I miscarried 5 times! My sixth pregnancy was with twins and one vanished and I also had blood clots on my ueterus (3) to be exact! My re still didnt think I needed anything! I started taking baby aspirin and lots of Folgard & Neevo prenatal, so I had one healthy baby boy on 2010. Now we are back to tryng for baby # 2 with no luck. Im on my 3rd cycle and my RE never checked the homo levels this time and I’m pissed. Back in 2009 they were 12 which stated high on the lab sheet buty doctor said he wouldnt worry about it…This is so frustrating and I really hope these doctors understand how emotional it is to lose a child over and over again, no matter the age/weeks.

    Dr whats your feel on my homo level of 12 back in 2009? I also have one mutation of each c77 & a12
    Goodluck to all!

  30. Dolores Seames January 4, 2013 at 11:56 pm # Reply

    Dr. Ben,

    My homocysteine level is 6.8, and SAH is 39.8, which is in the low normal range. According to Dr. Tim from the MTHFR support site, a homocysteine level of 7 is concerning, and 5 is worrisome. My homocysteine has always been normal, or low normal. I am homozygous C667T. I wasn’t doing well with even a tiny bit of methylfolate. I am now taking Hydoxy B12, Adenosyl B12, and have recently added back in Methyl B12. My doctor recently put me on TMG, and have been doing well, with the exception of getting major upper back acne. My doctor said that is a good sign of detoxing. My main concern for now, is, is taking TMG going to lower my already low homocysteine, or will it improve my methylation and help my low homocysteine levels? I have also added in your Lyposome Active B12 with L-S-MTHF liquid. I started at 1 drop, and am now at 4 drops. I did get a little muscle pain, but had done a tiny amount of exercise that I think had something to do with it. I have been on the GAPS diet for more than 1 1/2 years, and a couple of months ago, started a low sulfur diet. At the same time, I started using Magnesium Chloride oil and bath flakes. Since then my muscle and joint pain has greatly improved.

    I thought I should give you the above information so you can better advise about my homocystein questions.

    Did I see somewhere that Nitric Oxide is involved with homocysteine? I’m wondering if I have a problem with having low nitric oxide, because I get a lot of Reynaud’s symptoms in fingers and toes. I think I have also notinced that as we improve my thyroid levels, the reynaud’s improves, as well as a lower estradiol level. I don’t know if any of this is related, but thought I’d add it in, just in case.

  31. April Driesse January 15, 2013 at 3:10 pm # Reply

    Dr. Ben,

    My 3.5 year old had her homocystesine levels checked by her Hematologist, because I have MTHFR A1298C Heterozygous. He did not check for MTHFR in her, but checked Homocysteine because she has a congenital heart defect, so the concern is stroke, heart attack, that sort of thing. Her homocysteine came back at 5.4, which from what I am reading is VERY low, but is this normal for a 3.5 year old? Could she still have MTHFR even though her homocysteine is normal?

    • April Driesse January 15, 2013 at 3:11 pm # Reply

      Also to add:
      I am MTHFR A1298C Heterozygous, and have had 5 miscarraiges, and 1 stillborn. I’ve also have other clotting defects. My daughter is Heterozygous for Factor V Leiden, and she has Aspergers… Appreciate your opinion…

    • Dr Ben January 16, 2013 at 10:02 pm # Reply

      April –

      She may not be eating enough protein. Consider focusing on having her eat more protein and then retest her homocysteine levels. If they are still low, then consider supplementation with Methionine but have to be careful as methionine can raise homocysteine levels very effectively.

      She also may have a CBS regulation which has various causes – one of which is genetic. 23andme.com does check for CBS.

      • April Driesse January 16, 2013 at 10:38 pm # Reply

        Thank you for your response! We plan to have a 23andMe done on her soon. We will do what you have reccomended. We also plan to get her on one of your childrens chew-able vitamins.. I forget the name, what is the name of the ones for children?

        Thanks Again

  32. Dolores Seames January 17, 2013 at 4:09 pm # Reply

    I see you mentioned eating more protein, mainly methionine to raise homocysteine, but how can we do that if we are eating low sulfur foods, in order to be able to handle the methylation supplements?

  33. Pamela January 17, 2013 at 11:07 pm # Reply

    Dr. Ben,

    I am a healthy 26 year old.I carried a child to term in 2008 but when trying again, I have only conceived twice and both ended in early miscarriages. My OBGYN said everything was fine, it was normal. So, i called a specialist. I tested positive for both MTHFR C677T,A1298C mutations. My Homocysteine level is 7.6. She said to take folic acid for now. Is this going to help since it is homozygeous? And, I have also had minor chest pains for years, I saw a doctor many years ago and they said it was my lung catching on my ribcage when I breath and not to worry.. now that I see there is a link between MTHFR mutations and cardio problems, I am starting to wonder if this has been the problem all along. Your thoughts? Any advice would be much appreciated!!! Thanks!

  34. Gillian January 18, 2013 at 8:30 pm # Reply

    I have heterozygous C677T mutation and normal homocysteine levels. I also had an initial anticardiolipin Ab titre of 13 (considered) low. I have had 2 miscarriages in the past 4 months. My doctor at this time feels neither of these is likely to be the cause. All other tests (thrombophilia, chromosome analysis) were normal.

  35. Arwene February 8, 2013 at 1:25 am # Reply

    I just got my test results back and am heterozygous for the A1298C variant. I have had two losses. The first was due to Hypoplastic Left Heart Syndrome (pregnancy went full term but she did not make it to her Glenn surgery) and the second was due to T21 Down’s Syndrome. Since running across data about MTHFR after we found out about the T21, I have been taking Thorne’s Basic Prenatal, sublingual methylcobalamin(1000mcg)/methylfolate(800mcg), DHA 400mg, Viactive Calcium chews 2x per day, and CoQH. I believe that I am now pregnant and plan on starting a daily baby aspirin after I miss my period (verrrrry faint positive right now on HPT). Is there anything else that you can think of that I should be doing since I am having to treat myself at the moment? I have eliminated all wheat/synthetic folic acid from my diet and eat LOTS of veggies and fruits – many kinds. Oh and also my karyotype was normal and my hubby was normal on the karyotype and on both MTHFR variants.

    I have not found a doctor who is knowledgeable about MTHFR yet. My OB actually refused to test me for it (or any of the other tests you recommend on your video OR to even refer us for genetic counseling). I had to bring a binder full of research studies to the practice showing the link between T21/CHDs and MTHFR and then the nurse had to get a DIFFERENT doctor to even sign off on the MTHFR test. (She is such an awesome nurse!) Since I tested positive, they finally said they would do a referal for genetic counseling, but I am worried that I may hear that MTHFR is no big deal from that doctor too. I am really hoping that I’m doing all of the right stuff for this baby to live and be healthy!

    • Blen February 13, 2013 at 1:10 am # Reply

      Dr. Ben,
      This is Blen, a healthy 25 years old from Rome, Italy but am originally from Ethiopia and until now am the only east african with the mutation MTHRF (Heterozygous C677T) that i know of.I have never heard of this condition before i was diagnosed with it. I wonder how many Africans suffer from this condition without any chance of being diagnosed?
      4 weeks ago i had a missed miscarriage of my second pregnancy and had a D&C, i was 9 weeks but the baby measured only 7 weeks. I lost my first pregnancy at around 7 weeks, about 6 months prior, the cause was unknown but it was described as ‘Spontaneous Miscarriage’. Both times, while i was pregnant, i had bleeding and spotting so me and my husband spent hours and hours in emergency rooms, most of the doctors that we asked did not recommend genetic testing until the 3rd miscarriage which i think is very very upsetting. But after my second miscarriage i decided to look for an OB that would agree to prescribe me all the necessary tests and luckily i found one that took my case seriously and had me tested for Homocysteine levels, Free T3, Free T4, Lupus Anticoagulant, TSH, Antithrombin 3 , CA-125, CA 19-9, Factor V Leiden, Factor II and MTHRF. The only thing that came out positive was the C677T mutation. But am still a little skeptical with the way my OB is going, she assured me everything will be fine and only high levels of Folic Acid and Baby Aspirin would do the magic but from what am reading, i don’t think that is the right solution. What do you recommend i should take? Do you think the early loss along with spotting and bleeding is also connected to the mutation?And is it necessary to start taking medications some months before TTC?
      Thank you very much for your researches and Good luck everybody!!!!

  36. MS March 26, 2013 at 6:32 pm # Reply

    I am homozygous for A1298C and I’ve had three miscarriages. The first my son was a twin, he lived and the other didn’t. The second time I was pregnant also twins and neither survived. The article seems to lead toward miscarriage in heterozygous but obviously it’s possible with homozygous too. I have also become anemic at one point from lack of Folic Acid. I know this because when I started taking it I suddenly wasn’t anemic anymore. I was sick with IBS for two years and had nocturnal seizures throughout the pregnancy with my one surviving child. I didn’t know why I was sick for a long time. I stopped eating milk and bread and my seizures went away. I am wondering if I should take folic acid at all, how much, what kind, etc. Seems everything also says I should be fine but I’m not. My sister is homozygous with C677T along with having Factors 2 and Factor 5 Leiden, and the way we found out there was any genetic problem was her oldest son had a stroke at birth from clotting. Neither of us are receiving serious attention. She gets help when pregnant only and I’m ignored pregnant or not. The underestimation of the problem is huge so I am glad for this site.

    • MS March 26, 2013 at 6:44 pm # Reply

      *sorry my sister is heterozygous and I thought she had thrombocytopenia at some point. My folate levels have shown too high on blood tests. I don’t really know what to do with myself and all the medical problems I’ve had as we also (including my brother) have hypophosphatasia/ostopenia genetic problems. My doctors have been in disbelief the entire time that anything should be wrong with me due to my age 26, and otherwise healthy physique and appearance most of the time.
      The anemia I experienced caused me to sleep for about a month, I had petechia, major bruising, hallucinated…….they tried to pinpoint everything as a mental disorder for a long time, even my seizures and IBS. I know I don’t hallucinate regularly or have anemia all the time now that I’ve supplemented folic acid, but is it the right thing to do? Is it the right kind? I don’t know….If you have any advice Dr. Ben I could really use it.

  37. Lee Ann Hunt April 11, 2013 at 3:02 pm # Reply

    I am sad after reading this. I miscarried about 15 years ago and all they could tell me was the umbilical cord did not develop correctly. Now I know all I needed was the right vitamins, and a doctor that understood this. I have not been officially tested for MTHFR, but just had a horrible reaction to nitrous at the dentist, and am pretty sure this was the reason. Thank you so much.

  38. Brianna June 13, 2013 at 2:49 am # Reply

    This article has helped me so much and I plan to show it to my RE the next time I see her. I am feeling so helpless, confused, and don’t know what to do.
    I am 32, had two normal pregnancies that led to healthy children in my 20’s, and now trying for our third. I have just had three miscarriages in the past 10 months, all before 10 weeks. After my third loss I had to ask for the MTHFR test. My RE said she would run it, but that would not be the cause because my homocysteine levels were normal after testing that I had done after my 2nd loss.
    She called me a few days later to tell me I have one copy of the A1298C. But it’s of no concern, just extra FA, and B vitamins(her words). Out of all the testing I’ve had done, this is the only thing abnormal that has come back.
    If there is anyone that can give me some advice or hope, I would really appreciate it. I’m not sure if I should see another RE, or a hematologist, or a perinatologist. I don’t know who to turn to. I feel like this has to be taken more seriously. I mean, shouldn’t my husband have the test done too? If he has the mutation too, could that play a part in why I’m miscarrying? And what I am trying to figure out is did this mutation cause me to have babies with severe defects that would never have survived, so this was inevitable? Or did this mutation cause blood clots that led to their demise, and could have been prevented?

  39. Hope4More June 29, 2013 at 3:42 pm # Reply

    Dr. Lynch,
    I am the Heterozygous 1298 mutation you talk about. I delivered a healthy son in 2010, but have had 3 miscarriages since (at 8 weeks, 5 weeks, and 5 weeks). My doctor told me to take an extra folic acid supplement, which I now know may not be the best advise. I have switched to 500mg L-5-Methyltetrahydrofolate in my prenatal (Thorne brand) and 1 mg from an additional Thorne brand supplement. My RE did not run homocysteine levels, and she will not continue care for me until I have an adhesion removed in her office in August. Her suggestion once we are trying again was to induce ovulation with Famara and Ovidrel, Lovenox injections from positive through 6 weeks post partum, Progesterone supplementation, and extra folic acid. I am doubtful, and am debating switching REs.

    • Dr Ben June 29, 2013 at 9:45 pm # Reply

      Hello –

      From my experience, I do not think the 1298C MTHFR mutation is causing the issue.

      Evaluating your hormones, homocysteine, organic acids, amino acids, chem panel, thyroid, adrenals, food intake, etc are all needed.

      I would be looking for an integrative OB/GYN and/or ND who specializes in pregnancy.

      • Maria August 13, 2013 at 9:42 pm # Reply

        Dr Ben,

        I wonder if you have to look at both the mother and father’s mutations to determine the affect? I am hetero 1298C and my husband is hetero C677T. I miscarried two babies and had two babies born prematurely only with the help of many meds and complete bed rest. One of them is hetero 1298C and the other child is compound hetero (she was more premature than my first child)… You say that 1298 does not affect miscarriage, but what about if the child or parents have both mutations? I’m thinking that may have played a role in my experience. Thanks for all the great work!

  40. Rachel Savoian July 16, 2013 at 4:25 am # Reply

    Hi Doctor Ben,
    I am 29, and I’ve had 2 miscarriages since February; one at 5-1/2 weeks and the second at 12 weeks. After my second miscarriage, in late June, my doctor ordered chromosomal testing and we found out I am heterozygous for both C677T and A1298C. However, my homocysteine levels are normal (a 7). I read in your post all about how doctors need to take seriously when a patient is heterozygous for one or the other of these, but I’ve never even heard of someone like me, who has both, and yet has normal homocysteine. How is this even possible?
    Also, about using aspirin to stop the clotting issue: after years of digestive issues (which now make much more sense knowing that I have MTHFR) I had an endoscopy done a year or so ago, which revealed profuse bleeding in my stomach. As a result, I’ve been warned by my doctor not to ever take aspirin or any other kind of thinner. Considering the MTHFR factor, and assuming I am going to try to get pregnant again, which is more dangerous, to take the aspirin or not to take it?

  41. Angie Fette July 17, 2013 at 11:50 pm # Reply

    I had 2 miscarriages and tested positive for heterozygous A1298C. I was born with both mild spina bifida occulta and scoliosis, but otherwise healthy. In my teens I developed IBS and migraines. In my late 20’s I was exposed to both toxic mold for a long period of time and a gas leak from our furnace. During that time I developed severe Fibromyalgia and became so bad that I became disabled and unable to work. During the progression of symptoms I became depressed and developed generalized anxiety. I now have a lot neurological symptoms, high blood pressure, and gastro symptoms with the IBS and bad GERD. I just turned 40 and feel 70. For several months after mold exposure I tested positive for Epstein Barr but it stopped and no positive test since. I also have strange, unexplainable symptoms like severe hot flashes and sweats that started in my late 20’s so too young for menopause (Ive had another baby since.) tremors, burning and tingling sensations in extremities, burning in core, swelling of legs and feet, occasional heart palpitations, shortness of breath (EKG showed abnormality, but they couldn’t figure what it was and blood test for heart was fine) and I’ve even passed out before. I bruise easily but no anemia.

    That’s a pretty broad description considering the dozens of symptoms I have but it’s an overview of what I suffer from and only heterozygous A1298C. I have several silver amalgams also.

    I just got the diagnosis and have no idea how to proceed with treatment or if there are any good doctors near Cincinnati that know how to further evaluate me, but I’m sharing to help with your research, if it can be of help.

    Thank you for your hard work.

    Angie

    • Angie Fette July 18, 2013 at 12:25 am # Reply

      P.S. Forgot to mention had gall bladder out after last pregnancy 3 years ago. And I tested negative to allergy against the molds in our home, but all 4 of us became similarly sick within a couple of months after moving into the house and progressed until getting out. Mold was in between walls and in vent system.

  42. Dr. Crockett July 30, 2013 at 4:09 pm # Reply

    I am an Ob/Gyn and I have learned a tremendous amount from your web site. I cannot, however, find a lab to test SAH levels for my patients. Where do you send out for testing?

  43. Julie August 7, 2013 at 11:37 pm # Reply

    Please forgive my ignorance on this topic, I literally was diagnosed a couple days ago, and am literally trying to get my head wrapped around it and learn as much as possible. After having 2 PE’s and a DVT (I’m 37). I have a mast cell disorder as well as some other fairly significant health issues and was referred to a hematologist. A number of tests were ran, and the only test that was positive was Homocysteinemia. The doctor told me I only have half the gene so it came from only one parent. He also said that my homocysteine level was so high the lab reran the test to confirm the results. I was sort of dumbfounded and couldnt think to ask any questions. Could it be the MTHFR gene, or are there other genes that can cause this same issue? I appreciate you taking the time to read my lengthy question as well as the information you provide through your website.
    Sincerely,
    Julie

  44. dan August 27, 2013 at 10:35 pm # Reply

    Homozygous for MTHFR gene
    Voluntarily ordered MMA and Homocysteine
    All common labwork came back normal
    MMA was actually 86 (on the low end)
    and Homocysteine 9.4

    Should I even begin L-5 Methylfolate and B12 supplementation at this time?
    Aspirin?
    Other?
    Age 38, Male

  45. Audra October 26, 2013 at 7:07 am # Reply

    Hi Dr. Lynch- I’ve had 4 early miscarriages in the past two years (all before 6 weeks). I’ve had comprehensive RPL testing and all results are normal. I’m 34 yo with great egg reserve, hormone indicators – negative for all other clotting disorders and have had my uterus examined twice (HSG and saline) – all normal. My doctor just told me I tested positive for the C677T heterozygous mutation and as expected noted that this is not a cause of miscarriage. My homocysteine is low at 4.4. My husband and I have also had our karyotypes analyzed and they have also come back normal. Our doctor still thinks the issue may be abnormal genetics in our embryos (no way to tell without IVF w/PGD). Any thoughts? I’ve just started a daily baby aspirin and have been taking prenatals for the past two years. Also taking an herbal formula from my acupuncturist and just started on CoQ10. We’re at a complete loss.

  46. Leah November 12, 2013 at 12:00 am # Reply

    I’ve experienced three 1st trimester miscarriages, though my first pregnancy at 29 years old was healthy and resulted in my perfect now 5 year old son. After the second miscarriage I had some initial testing done by a specialist that came up with nothing ( or so I was told) and the doctor explained it was probably just a fluke that I had two miscarriages back to back. I was thrilled with the third pregnancy and felt confident all would go well. I was devastated to lose the baby at 12 weeks. My new doctor did a full genetic work up on my husband and myself and we both have Heterozygous A1298C. She has me on a prenatal with methylfolate, liquid d-3, ProOmega, Ultra-Cal Night and a baby aspirin. How long should I be on this protocol before trying again? I’m also curious if this genetic mutation could have caused the cord abnormality ( a single vessel cord) in my first pregnancy.

  47. Jaime McLemore November 19, 2013 at 2:55 am # Reply

    Hi Dr. Ben,
    I have recently been diagnosed with Heterozygous MTHFR C677T and A1298C. I am 26 weeks pregnant and my baby has Down Syndrome and am 36 years old. Some other mothers that have children with DS suggested I get tested for MTHFR. I have also previously struggled with secondary infertility for five years and no one ever tested me. My homocysteine level is 3.4. I have recently started the Seeking Health Optimal Prenatal, Thorne 5-MTHF, Jarrow Methyl B-12 as well as Nordic Naturals Omega-D3. Do you have any other suggestions? Is this all too much considering my low homocysteine levels? Thanks so much for your valuable website and taking the time to review this post.

  48. C Naude November 21, 2013 at 5:47 pm # Reply

    After having 4 miscarriages I had a load of tests done to see if anything was going on. They showed I am a carrier for hetero MTHFR C665T. Is this the same as C667T? I also seem to have a low INR result (1), high Thrombin (15.4), high free protein S (119), high AT Functional Assay (120) and high APC Resistance (130) (high based on the clinics recommended ranges). My husband is negative for MTHFR. I wondered whether this is the same as the 667 version and what you recommend supplement wise? I had been taking folic acid for about 2 years now whilst all these miscarriages happen but have stopped, added B4 and B12 and am waiting for an order of Folate. I also have aspirin to take when pregnant again. Is there anything you can advise? I don’t get this covered in my health insurance so are saving up to see the doctor for more support in a few weeks. Am also considering the Natural Killer tests but am very overwhelmed at these seemingly negative results and would love some help to calm down and get a plan in place!

  49. Tucker December 6, 2013 at 12:31 am # Reply

    Heterozygous for C677 . Started taking methyfolate (3.5 mg – 1/2 7mg Deplin), methylB12, and salmon oil 6 weeks ago and am feeling better. Homocysteine level is 8 (low). I too had 3 miscarriages, and 2 live births. I am definitely getting my adult children tested. Especially my daughter. It’s just too important!

  50. Amber December 27, 2013 at 7:11 am # Reply

    I am hetero A1298C. Was tested after 3 early miscarriages in 2 years. MFM suggested giving baby aspirin a shot and it worked. Kept my 4th pregnancy ’til 18 weeks when we unfortunately lost her to Triploidy. Kept taking baby aspirin for my 5th pregnancy and had a healthy baby boy with no complications. I recently had a gene test by 23andme and have several other gene mutations labeled MTHFR but they are not classified as good or bad…probably due to lack of research I assume.

  51. christine February 12, 2014 at 1:50 am # Reply

    I had one miscarriage at 7 weeks, a healthy pregnancy with my now 18 month old daughter and then a second miscarriage at 12 weeks in December. My doctor just called me with my test results-she did an extensive blood panel for re-current miscarriage-and she told me that I the only thing that showed up was a MTHFR mutation. She said my homocysteine levels were normal and that she was relieved that this is an “easy fix” with Folgard once a day(for the rest of my life) in addition to my prenatal vitamin, increased to 2 times a day when I get pregnant again, and told me that she would be closely monitoring me with frequent u/s throughout pregnancy along with induction at 39 weeks. What are your thoughts? I am otherwise healthy and 34 yrs old.

  52. Sadiqa March 9, 2014 at 5:30 am # Reply

    Hi Dr Ben,

    What is your opinion on stillbirths and MTHFR gene mutation?

  53. Libby March 28, 2014 at 8:11 pm # Reply

    I have compound heterozygous MTHFR mutation but was fortunate to have been DXed prior to my first pregnancy and I was lucky to have 3 successful pregnancies and 3 healthy children (1st pregnancy on baby aspirin; 2nd and 3rd on injectable Lovenox). I’m not planning to have any more children but am wondering what protocol you recommend for just prevention of possible future health issues resulting from my mutations. I read the protocol for homozygous mutations with interest but am not sure it applies for compound heterozygous mutations. I am currently working with a homeopath and being treated with a remedy so I would also be curious to know how that could affect the MTHFR. Thanks so much.

    • Libby March 28, 2014 at 8:14 pm # Reply

      I forgot to mention that whenever I’ve had my homocysteine levels tested, they have been “within normal limits.” Also, the reason my OB tested me for MTHFR mutations before pregnancy was because I presented with Raynaud’s Phenomenon.

  54. Rachel May 21, 2014 at 3:04 pm # Reply

    I tested heterozygous A1298C (my husband was not tested) with a homocysteine level of 5.6. I have suffered 3 total miscarriages and have two living children. My 6 year old was born at 32 weeks via c-section due to severe pre-eclampsia which resulted in me spending three days in ICU after his birth because of HELLP syndrome. My 3 year old was born at 37 weeks via c-seciton due to severe pre-eclampsia again (although I was on bed rest for 7 weeks, did acupuncture through the whole pregnancy and took Metagenics prenatals which I believe prolonged the pregnancy – pre-eclampsia systems started at 30 weeks). My Ob-gyn prescribed Foltx for life (Folic acid 2.5 mg, cyanocobalamin B12 2000 mcg, pyridoxine hydrochloride B6 25 mg) which I am afraid to take. The high risk prenatal doctor told me I didn’t need to do anything different because my gene mutation was “common”. As far as my general health, I try really hard to watch my nutrition and stress levels, but I tend towards fibromyalgia systems and irritable bowel systems if I don’t keep those things in line. I have inflammation in my joints, especially in my wrists, acne for much of my life and also now chronic bacterial vaginosis since the birth of my daughter. I have been trying to figure out what supplements to take to help alleviate my symptoms but I don’t understand the medical terminology and get scared about taking something that will cause more problems.

  55. Laurin May 28, 2014 at 8:07 pm # Reply

    Dr. Ben,

    Thanks you for your post. I had 2 easy pregnancies resulting in two precious girls in 2010 and 2012. October of 2013 Iost a baby at 13 weeks after seeing a heartbeat at 9 weeks. Got pregnant again in December with hopes of a successful pregnancy only to lose that baby after seeing strong heartbeat at 7 and 8 weeks. After tons of testing I was told I had hetero MTHFR. The specialist told me that I could try lots of things but had just as much of a chance having a baby as dancing in a grass skirt in my front yard….now I’m learning on my own though articles like yours that I need to be taking aspirin along with folate instead of folic acid. I requested to have my homocysteine levels checked and they just came back at 5.3. Seems pretty low. I want to be proactive and smart about this for my health and the hope of another child one day. Any advice would be very appreciated.

  56. Tracey June 20, 2014 at 7:27 pm # Reply

    Dear Dr. Ben,

    After losing a baby at 16 weeks pregnant, I also followed that with two more very early miscarriages at 4 weeks each. I was then diagnosed with one copy of MTHFR C677T mutation and one copy of the A1298C mutation (compound heterozygote). In addition to continuing my prenatals (New Chapter—probiotic, whole food, non-GMO, organic veggies and herbs) which has 600 mcg of Folate as well as 5 mcg vitamin B6 and 30 mcg vitamin B12 and many other things like 20 mcg Niacin, etc., my doctor also prescribed Deplin, as well as one baby aspirin a day and Pregnitude. Pregnitude is a dietary supplement for reproductive support which consists of 200 mcg Folic Acid and 2000 mg Myo-Inositol. It is supposed to help promote regular ovulation, regular menstrual cycles, and increase the quality of eggs released in each ovulatory cycle. Should I not be taking the prenatals I’ve been taking? Should I not be taking the Pregnitude either? I also had some polyps and had them removed a month ago. We are still trying to conceive. After researching this genetic mutation more, I questioned my doctor (through a message from the nurse) on whether I should be continuing to take my same prenatals and the Pregnitude and his message back to me through the nurse was yes. I just saw the Seeking Health Prenatals that you take and I ordered them. I’m just wondering about the Pregnitude that I’d really like to keep taking if they help promote healthier eggs, but after reading some of your comments, I’m wondering if maybe I’m making my eggs less healthy by taking the Pregnitude. I’ve been taking it twice daily for 3 weeks now. I’ve been taking my prenatals since August 2013 when we first conceived the baby I lost at 16 weeks. Please help me understand what to do!!

    In addition to the above info I provided, I also want to mention that I had two healthy pregnancies when I was younger. My children are now 16 and 13. I am now 44 and TTC and just now found out about my compound heterozygote MTHFR C677T AND A1298C mutations. Please also explain why these mutations would affect me more now and not with my two pregnancies with my children when I was age 27 and 31. Does my older age affect this mutation even more now? Thank you so much!

    Tracey

  57. alison July 29, 2014 at 1:16 am # Reply

    I had a first healthy pregnancy all the way to term..no problem then two miscarriage and then another healthy pregnancy and then a miscarriage after that. My obgyn ordered a test which came back positive for heterozygous c677t. Her suggestion was to increase folic acid. I am nor planning on having any more children but would like to know what I could be doinh to be in my best health?

  58. Kelly August 3, 2014 at 3:19 am # Reply

    Hi Dr. Lynch,

    I was wondering where your reference was for fish oil lowering S-adenosylhomocysteine?

    Thank you,

    Kelly

    • Dr Lynch August 3, 2014 at 5:43 am # Reply

      Clinical experience.

      But also looking at biochemical pathways it’s clear how to lower it.

  59. Kathryn August 6, 2014 at 6:52 am # Reply

    I have been tested and positive for compound Heterozygous.
    My homocysteine level came back at 5.1…thats on the lower end of normal.
    So what does this mean? Am i methylating fine? As they are not elevated..
    Or should i test SAH levels?
    I’ve had one healthy baby 5 years ago…have been trying for the last 3 and a half years for another one but ending in two miscarriages…

  60. Kathryn August 7, 2014 at 6:45 am # Reply

    (adding to my last comment)

    If i could get some kind of idea of what to do from here? I would appreciate it sooooo much. I live in Australia and don’t know where to go or who to see that knows enough about this gene mutation.

    Im currently taking 1000mcg of Methylfolate and 1000mcg of Methyl- B12.
    My fertility specialist told me to take a high dose of folic acid but after reading your website i stopped, also put on clexane blood thinning injections.
    But Ive stopped the injections too as I’m having a break from my Dr as i want to make sure my body is at its healthiest before spending anymore money tracking cycles etc.

    So I’m taking low dose aspirin for the mean time.
    I have also added Fish oil and vitamin c tablets back into my diet.

    Should i be doing anymore to prepare myself for a healthy pregnancy??
    Or does my homocysteine levels of 5.1 tell me that there isn’t too much of a problem?

  61. Jessica Al-Teet August 8, 2014 at 9:52 pm # Reply

    Hi Dr. Ben,

    I have just been given the result of having MTHFR C677T HETERO single damaged copy. I am currently 20 weeks and taking 5 mg of Folic acid and Materna Prenatals. Wondering if it is too late or what can I do to prevent Placenta Abruption as well as stillbirth?

    Thanks!

  62. Diana August 22, 2014 at 4:19 am # Reply

    I am 27 and have miscarried 3 times in less than a year, twice completely at 5 weeks and one “missed” miscarriage discovered by an ultrasound at 11 weeks. A hematologist ran 16 vials worth of tests on me, and came back saying with all my familial symptoms and RPL she had expected to “find more.” Even on the paperwork I received, they list heterozygous C677T as not being a contributing factor in RPL. From what I’ve read online from all the other ladies with C677T and RPL, I’m thinking I’ll poke around and come up with my own supplemental regimen to hopefully one day achieve a family. I am very glad to have found this site or I would have take the 4 mg of folic acid my doctor prescribed, and would have never known to take L-5-MTHF instead.

  63. Molly Malone August 27, 2014 at 4:42 am # Reply

    Just a thank you to Dr. Lynch for giving so freely of his advice – something rarely seen online, if ever. Many write articles and blogs, but few indeed answer with ideas and advice. We are all better for this site and I am grateful indeed since like many, I read comments and learn from them as well as from the articles.

    Dr. Lynch’s book on MTHFR is available in Amazon for those who need to read it: MTHFR Basics [Kindle Edition] By Benjamin Lynch, ND

  64. Karen September 11, 2014 at 2:17 pm # Reply

    Well, a lot and not so much has changed from when my nightmare started in 2006. I had 2 uneventful pregnancies, a loss due to missing X chromosome (Turners) and then an uneventful pregnancy with my first son. We tried for one more with the following results: blighted ovum, early 6 week loss, normal chromosome boy loss at 12 weeks missed miscarriage…..testing finally only thing significant hetro for C mutation MTHFR…extra folic acid from RE, peri agreed to baby aspirin to shut me up, all doctors including specialist in MTHFR told me my homocysteine levels were good and weren’t causing my losses. Two more pregnancies that resulted in missed miscarriages of a 14 week of normal baby girl and 11 week of normal baby boy(so much for it being my eggs fault) and another early loss. Found new RE and Ob…..did the “controversial immune testing” nothing……Finally both new RE and OB agreed there was something wrong but they just didn’t know what. I was put only extra folic acid and Lovenox and in 2009 delivered a healthy baby boy. Surprise pregnancy in 2012 and was switched to L-methylfolate prenatal and continued on the Lovenox therapy which the doctor who supervised the midwives argued that I wasn’t a candidate for since I only have one mutation. November 2012, I delivered a 8 pound 3 oz baby boy. I cried when I read this since I know in every fiber of my being, that at least the late losses could now be explained.

  65. Michele September 19, 2014 at 1:25 pm # Reply

    This explains why I got blot clots in my leg from taking birth control pills and having over 10 miscarriages and failed IVFs. IVF doc classified me with unknown infertility. I wish I had know about this gene but that was 10 years ago before the Genome Project discovered this and I am now Peri-menopausal & almost 50.

    I was recently tested for MTHFR as per my request/research and am compound hetro.

    At least I have an answer and am living a healthy lifestyle that includes weightlifting and eating whole organic foods (gluten-free and nothing processed or enriched).

    Thank you for helping

  66. Lindsay October 2, 2014 at 1:54 am # Reply

    I’m heterozygous for C677T and have had 1 miscarriage and 1 stillbirth. The cause of the still north was determined to be chorangiosis or abnormal blood vessels of the placenta. Sounds like this could be related to the Sah?

  67. Vrsya October 8, 2014 at 1:41 am # Reply

    Hi,
    I have recently tested positive for mthfr C677T heterozygous mutation. My doctor advised me to take 5mg of folic acid. I have an 5yr daughter with autism . My pregnancy included digestive problems , vaginal infection,rashes on body, and i got internal stitches coz uterus mouth had opened. I am planning for pregnancy. Wot are the things to be taken care of incding wot supplement should i be lukin at.if i have C667T heterozygous mutation .how will it effect on my pregnancy. Pls Help.

  68. Amber Ellinger December 4, 2014 at 9:21 pm # Reply

    I am heterozygous for MTHFR c677T. However I have the added bonus of having both Factor Five Leiden and the Prothrombin gene mutation (heterozygous for both).

    I had a miscarriage at about 6 weeks earlier this year.

    My husband and I have a beautiful almost 7 year old little girl. We have not tried to prevent pregnancy since she was born. The miscarriage in March has left me devastated.

    We are currently seeing a Reproductive Endocrinologist and are in the middle of a Clomid/IUI cycle. Currently I am taking a baby aspirin a day, 10,000 IU’s of Vitamin D, Methylfolate, and fish oil.

    Was wondering if I should take any of those things out or add other items to by regimen?

    With the clotting disorders and the MTHFR C677T should I be on a higher dose of Lovenox when pregnant?

    So many questions!!

  69. Keri December 7, 2014 at 2:34 am # Reply

    In 2006, I miscarried and became pregnant again two-months later, at which point I found out I had MTHFR. I was instructed to increase my folic acid intake and was not told which polymorphism I had. I just got a genetic test done and found out I am heterozygous C677T with increased homocysteine levels and decreased serum folate levels. I have been taking 15 mg of l-methylfolate for the last year and decreased to 7.5 mg over the last two months.

    That aside, I would like to mention that my soon was born septic and was eating up his platelets (which could have been caused by the infection or other blood related issues). He had 3 blood transfusions and only began sustaining his platelet count when I donated mine. On top of that he was born with craniosynostosis, and level 5 vesicoureteral reflux in both kidneys, both of which had to be surgically corrected within his first 3 mos. I am concerned that my MTHFR contriubuted to his birth defects, particularly the renal defects, as the kidneys are one of the first organs to develop in utero.

    In addition, I had a dermoid ovarian cyst that was surgically removed in the 16th week of my pregnancy. I was given fentanyl and an epidural for anesthesia and I’ve always wondered if this also contributed to his birth defects.

    Either way, I wanted to put this out there because not only did I miscarry, my son was born with severe birth defects, one of which could have been fatal. Any insights or information would be greatly appreciated.

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