What is MTHFR?

“What is MTHFR?”

When people ask, ‘What is MTHFR?’, do they mean what is the MTHFR gene or do they mean what is the MTHFR enzyme?

In this article, I am going to provide you the basics of the MTHFR gene.

  • What does MTHFR stand for?
  • Is MTHFR a gene or an enzyme?
  • What other terms are used for MTHFR?
  • Where is the MTHFR gene found?
  • How big is the MTHFR gene?
  • What is the function of the MTHFR gene?
  • Why is the MTHFR gene important?
  • How much of the MTHFR gene gets mutated?
  • Common mutations of the MTHFR gene

What does MTHFR stand for?

MTHFR stands for the methylenetetrahydrofolate reductase gene (methyl-ene-tetra-hydro-folate-reductase).

Is MTHFR a gene or an enzyme?

For some reason, scientists thought they should name the gene MTHFR and also name the enzyme MTHFR. This is confusing and causes confusion especially if MTHFR is not labeled as MTHFR gene or MTHFR enzyme. Think of it this way: a healthy non-mutated MTHFR gene is supposed to produce plenty highly functioning MTHFR enzyme.

What other terms are used for MTHFR?

NADPH is 5,10-methylenetetrahydrofolate reductase. The MTHFR enzyme, made by the MTHFR gene, converts 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate.

Where is the MTHFR gene found?

The MTHFR gene is found on the short arms of Chromosome 1. There are two short arms of chromosome 1. Why? Because one short arm of chromosome 1 comes from the mother and the second copy comes from the father.

How big is the MTHFR gene?

The MTHFR gene is made up of 20,373 base pairs. A base pair contains two DNA nucleotides. A DNA nucleotide is made up of pyrimidines. The MTHFR enzyme actually helps produce pyrimidines – but that is getting ahead of ourselves.

What is function of the MTHFR gene?

The function of the MTHFR gene is simply to produce the MTHFR enzyme. However, if the MTHFR gene is mutated, the enzyme produced is not entirely correct.

Why is the MTHFR gene important?

The MTHFR gene is responsible for making a functional MTHFR enzyme. If the MTHFR gene is slightly altered (mutated), the MTHFR enzyme’s shape becomes distorted. Enzyme function depends a lot on shape. It is similar to the grooves on a key. If the grooves on a key are slightly different than the lock, the key may fit and turn the lock a little but it does not unlock the door.

The genetic code of the MTHFR enzyme must be perfect in order for it to function properly. A dysfunctional MTHFR enzyme may lead to a slew of health problems.

How much of the MTHFR gene gets mutated?

In heterozygous MTHFR mutations, only 0.000098% of the MTHFR gene is mutated. In homozygous MTHFR mutations, the value is basically the same.

This means there is just 1 mistake for a heterozgyous MTHFR gene mutation out of 20,373 steps done properly.

There are 20,373 base pairs making up the MTHFR gene on each chromosome. Remember one chromosome comes from the father and one comes from the mother.

What are the most common MTHFR gene mutations?

The most common MTHFR gene mutations are found at position 677 and/or position 1298 on the MTHFR gene.
At position 677 of the MTHFR gene, a Cytosine is what is supposed to be found there. When mutated, the Cytosine gets replaced with a Thymine.

At position 1298 of the MTHFR gene, an Adenine is what is supposed to be found there. When mutated, the Adenine gets replaced with a Cytosine.[1]

Researchers present MTHFR mutations most commonly like this:

  • MTHFR 677CC = a normal MTHFR gene
  • MTHFR 677CT = a heterozygous mutation which is one mutation
  • MTHFR 677TT = a homozygous mutation which is two mutations
  • MTHFR 1298AA = a normal MTHFR gene
  • MTHFR 1298AC = a heterozygous mutation which is one mutation
  • MTHFR 1298CC = a homozgyous mutation which is two mutations
  • MTHFR 677CT + MTHFR 1298AC = a compound heterozygous mutation which is one mutation from two different parts of the gene

Any comments or questions relating to what the MTHFR gene is, please post a comment below.

61 Responses to “What is MTHFR?”

  1. Angela November 10, 2011 at 2:19 am # Reply

    Hello Dr. Ben,

    I am a lil firmiliar with MTHFR… I am 28 years old and I have had three miscarrages, and I never make it to the 4th month. The fetus always dies in the 3rd month. I just found out a year ago that when i had labs drawn they identified MTHFR 677CT in heterozygous form. The doctor has me taking 1mg folic acid,and a baby asprin once daily. My fiance wants to try and have a baby, and I am terrified to try again, because I just don’t want to go through that pain again :'( I was hoping I could get some advice from you on what to take, and what not to take…. I really want to have a healthy child. I do not have any children… I think waht you are doing is amazing!


    • Dr Ben November 11, 2011 at 12:36 am # Reply

      Hi Angela-

      Thank you for your comment.

      I am sorry to hear about your three miscarriages. That must be incredibly difficult and I can understand not wanting to try again without having more information and support.

      Being heterozygous C677T MTHFR is a risk but not significant. There must be other factors at play here.

      I highly recommend testing your husband and seeing if he has any MTHFR mutations.

      There are numerous other potential causes of miscarriages and I am well versed in many. There are some complicated causes which I am not familiar with but for the most part, I should be able to provide some information which is very useful.

      I am happy to provide more information but it has to be one-on-one as I need to know more about you and your health.

      For starters, taking 1 mg of folic acid is not enough in my book – especially if it just folic acid and not methylfolate.

      If you’d like to schedule a consult with me, you may schedule here. I’m booked for a few weeks but tomorrow I still have some openings. I recommend a solid 45 minutes minimum in order to get a thorough handle on your situation and how to improve your chances of having a healthy baby in your arms.

      Warm regards,
      Dr Ben

    • Tamara April 24, 2012 at 5:04 am # Reply

      I have two copies of C677t and have had 4 miscarriages and 3 beautiful children. I took 4 mg folic acid prior to conceiving and throughout my pregnacy as directed by my Peds Cardiologist. This was the prescribing doctor since 2 of my 3 children were born with heart mumors – Pulmonary Stenosis due to the MTHFR mutations. My Peds Cardiologist had conducted a study on MTHRF and congenital heart disease. My husband carries the 1298AC mutation. Once we found out the right dosage of Folate to take our third child was born without complications. Also now that Active B is available I take one each and every day for my general health. This is the active form of B vitimans (a combination) so that it bypasses the MTHFR genetic morphism. Please consult a knowlegable genetics physican to navigate your health journey. Blessings to you.

  2. Kate January 3, 2012 at 5:21 am # Reply

    Hi Ben,

    Thank you for the work you are doing on MTHFR. I’ve just recently been diagnosed and am about to take further medical advice. Your site is very helpful.

    I homozygous for the normal wild type at 677/ C and also homozygous for the A>C at 1298/A. I understand that the double allele at 1298 is not good. However, I can’t work out with the language used in the test whether or not the 677 at C is normal or not? It would help to know this, so that I can relate to various information on your site.

    I’ve been very ill and hoping that in now understanding MTHFR, I’ll have a chance to be well. I’ll help to spread the word.

    Kind regards,


    • Dr Ben January 3, 2012 at 7:03 am # Reply

      Hi Kate –

      If you are homozygous for the normal wild type at position 677 for the C, this is normal. Anytime you see the word ‘wild type’ that means the general population has this gene and no mutation.

      What you have are two copies of the A1298C MTHFR mutation which means you have a defective BH4 pathway and this can lead to a multitude of symptoms.

      Neurological, mental, muscular and sensitivity to chemicals are common for this mutation.

      You do have a chance to be well or at least much better if you begin to address the A1298C mutation.

  3. kristen February 24, 2012 at 3:51 pm # Reply

    I have 2 copies of the same C677T mutation. What exactly does that mean? Does it mean I got 1 from my mom and 1 from my dad?

    • Dr Ben February 24, 2012 at 5:38 pm # Reply

      Kristen –

      You are exactly right.

  4. Jennifer August 10, 2012 at 10:08 pm # Reply

    Our son was recently diagnosed as homozygous C677T, so that means my husband and I are heterozygous C677T, correct? Would is be possible one of us could also be homozygous too and not know it? I’m just wondering, for our son to have two copied of the gene, both parents have AT LEAST one copy. So what is the point in both parents getting tested? Can you please explain that to me?


    • Dr Ben August 12, 2012 at 7:57 am # Reply

      Hi Jen –

      You are right – each of you donated one copy each of C677T to your son. What you don’t know is if you have another copy of C677T making your MTHFR mutation more severe. You also may have a copy of A1298C which would make you compound heterozygous.

      There is no real need for both of you to be tested for MTHFR since you both know you have 1 copy. What you need to do now is take action for all of you.

      Please read the MTHFR C677T Protocol.

  5. Elaine October 2, 2012 at 9:36 am # Reply

    I’m 52 and was just diagnosed as “compound heterozygous for the mutations, C677T and A1298C.” I had my internal medicine doctor do the test after my brother and his daughter were both diagnosed. So, what does that mean for me? My doctor is not familiar with this problem. Who should I see for treatment? Thanks…

    • Sarah November 30, 2012 at 5:50 pm # Reply

      I was just diagnosed with this too…hope to find an answer soon :)

    • Cynthia Dolney February 6, 2013 at 12:11 am # Reply

      I tested positive for mutations c677t, and a1298c, and so did my daughter, should my sons also be tested? And grandchildren?Help, please most Dr.s can’t tell me anything.

  6. Johnny October 10, 2012 at 7:02 pm # Reply

    I’m 21 years old and a professional athlete. Starting at 16 I started experiencing fateage. Now at 21 I’m experiencing Depression, anxiety and more fateage.
    Yesterday I received blood test results and turns out I’m positive and heterozygous for the C667T mutation. I have a very healthy diet. Eating from my own organic garden. Be eliminated gluten from my diet for years. What else would you recommend for me? Is the mutation to blame for these problems? Will I always be highly sensitive?

  7. Lauralynn October 29, 2012 at 1:50 pm # Reply

    Hi Dr. Ben,
    To make long history short — I had live birth (daughter in 2003, born with deafness and VSD heart condition); then series of multiple miscarriages (six in total) til 2007. All of my miscarriages ended in 6th week of pregnancy. I was then referred to a fertility specialist at Shady Grove Fertility Center (MD). I was then diagnosed with heterozygous MTHFR 677CT mutation. I was not debriefed on the importance of this mutation (still do not know what it is all about until 2012). All I was given was tons and tons of injections in my belly to prep for IVF pregnancy. Through IVF preg, my son was born in 2007, with conditions such as deafness and autism. MTHFR is not well known by my doctors. I had no one to talk to about this. Until I came across support group on website (Babycenter.com) for mothers with MTHFR. Bingo! Your name came up often. So here I am! Needing your assistance and advices. Does your office accept Kaiser health insurance? If yes, I would love to have you as my specialist for MTHFR treatment. I realize my mutations have caused these conditions both of my children. I need treatment asap as I do not want future pregnancy to be impacted as well. How do I obtain Metanx (or Thorne?) – heard so much about it from MTHFR mothers on website. Any advices would be greatly appreciated. ~ Lauralynn

    • Sarah November 30, 2012 at 5:54 pm # Reply

      I went to shady grove after 4 miscarriages and they didn’t even test me for MTHFR…I had to go to another doctor to get it diagnosed and be treated by it…I am hoping now I can get pg on my own without them…they did however find my autoimmune disease, Hashimoto’s…and this is who I got the new doc and the diag…I have a doc out in Aldie Va who treats this disorder :) http://www.andrewheymanmd.com/virginia.html

  8. Heather November 8, 2012 at 1:22 am # Reply

    Hi Dr. Ben,

    My little sister (14) and I (20) both tested positive for only one copy of the MTHFR mutation. 3 years ago, she had a sudden onset of a torturous autoimmune neurological condition (originally diagnosed as PANDAS). This happened overnight.

    I was diagnosed with the same thing, and, as my symptoms became more like MTHFR symptoms, I saw a hematologist to run the test. I am desperate to get my little sis better…is there any possibility that only one mutated MTHFR gene could cause or facilitate a severe neuropsychiatric illness?

    I’m assuming other factors, like infection and combination of 7 vaccines given at the time of onset, would be involved too. But since improvements have been slow/non existent for treating those factors, I think there has to be another answer.

    Is there any connection between MTHFR and the strength of the blood-brain barrier?

    She was the sweetest, smartest girl and now she’s completely disabled. I’m convinced she can/will get better, but I am still looking for the answer. Thank you very much for any input – even if the answer to my question is no.


    • Dr Ben November 9, 2012 at 12:14 am # Reply

      Hi Heather –

      It sounds more like a viral encephalitis but impossible to say.

      I would look towards learning how to optimize the neural tissue. Watch this long ME/CFS video by Rich who was a brilliant man in methylation.

      You may also want to learn about the PK Protocol.

      I do hope your sister gets better.

  9. Krissy November 11, 2012 at 4:00 pm # Reply

    I have just been diagnosed with C677T, and A1298C. It looks like heterozygous for both. Any natural supplements I can add? With the brain fog I’ve had going on, it’s hard to process all the information! Thank you!

  10. Sarah November 30, 2012 at 5:48 pm # Reply

    Hello there,
    I was just diagnosed with MTHFR and my lab report says that I am “positive for one copy of the C677T mutation and also positive for one copy of the A1298C mutation”. I looked above and I see that I have the one you list for C677T but you don’t list the one for A1298C. So I think I have a compound mutation of the gene…What does this mean for me?

  11. Alan Burke January 22, 2013 at 9:54 pm # Reply

    I am a 65 year old male. I’ve been treated in the past for a pulmonary embolism, and numerous DVT’s in my right lower leg. Only recently was I allowed to stop using blood thinners as I was recently diagnosed as MTHFR, homosysteine. I was described by my doctor as a Double hererozygote, and have been taking FOLTX TABS PAL. I haven’t seen anything so far in your articles about the Double hererozygote.

  12. Kelly January 26, 2013 at 3:59 pm # Reply

    Hi Dr. Lynch,
    I have tested positive for one copy of the A1298C Mutation and negative for the C677T mutation. I have only recently found your information. I have had some serious health issues here in my 50’s, melanoma, squamous, nerve issues in my hands/shoulder/neck, joint and muscle pain, as well as many miscarriages back in my 30’s. I have two college age children, one was born pre-mature at 26 wks. Both children despite trying to be healthy, eat healthy, exercise, etc. they have challenges. ADDish type, serious stretch marks, acne, my son had some issue with his heart in High School, depression, anxiety. They both deal with fatigue even though they are very active and do their best to get the rest they know they need. I know because I lived that same way, you just keep on pushing yourself thinking that you must not be doing all the ‘healthy things’ correctly. Are these all connected? Do have any recommendations for us?

  13. Alissar April 10, 2013 at 10:53 am # Reply

    Hello Dr. Ben,

    I am 35 years old and 5 months ago i gave birth to my boy at weeks 34 and 4 days, it was due a clots in my placenta found one day before my C section delivery. My OB told me to make DNA test and found i am MTHFR 677CT other factor 5 and other tests are negative.

    should i take aspirin and medication in my next pregnancy? how does this mutation affects my health in general??

    thank you

  14. Heather April 19, 2013 at 5:07 pm # Reply

    Dr. Ben,
    I recently have returned blood work with heterozygous genotype MTHFR C677T and MTHFR A1298C polymorphisms. My doctor did not address it, did not even mention it. When I got home and was reading my results I was very surprised and now very scared. My father died of brain cancer, my grandfather of colon cancer. I myself have had cervical cancer, have had veins removed from my leg because of deep vein thrombosis. I just turned 38 years old. History of major depression, have anxiety disorder, add, constant headaches which I have I have to get nerve block and injections in my neck. I also have numbness in my arms and hands, back pain and just in pain all the time. When I take a deep breath I can feel my bones in back crack. I am so scared and I dont know what to do. I am constantly out of breath with very little activity. I cant breath. My cholestrol is off the charts. My blood work says I also have small dense LDL cholesterol and APO B are increased and suggest I have a metabolic disorder — Which I have told my doctor I think something is wrong with my thyroid due to NO energy and weight gain when I should not be gaining weight. Six months ago my physicatrist ordered TSH, FT3 and T4 and my T3 was low. Noone is helping me and I am afraid I am going to die if someone does not help me. Will you please help me ? I could send you my blood work if you would be willing to take a look. There is no doctors in my area of Cincinnati that are listed are on your site. Please help me.
    Thank you.

  15. Michelle April 21, 2013 at 8:02 pm # Reply

    I was diagnosed after a pregnancy loss at 26 weeks. All I was told was that I was MTHFR Homozygous, No doctor I have ever seen has been able to give me any more information than that. I was prescribed Folgard when I was pregnant and was told to continue taking folic acid, b vitamins and low dose aspirin. Any information would be appreciated.

  16. Roy Dittman July 31, 2013 at 4:30 pm # Reply

    Dear Dr. Lynch. First, thank you for your great work. I am currently intrigued by the potential effects of glyphosate on the production of methionine and possibly on the production of MTHFR itself. I was wondering if you had read Drs. Samsel and Seneff’s new paper published in the journal Entropy and what your thoughts were on this issue. My principle interest is in preventing birth defects before conception. Here is a link to the article: http://www.mdpi.com/1099-4300/15/4/1416

  17. Ryan December 23, 2013 at 9:51 am # Reply

    Has anyone ever tried to just make a supplement of the MTHFR enzyme itself? If they did, treating people with mutations would probably be a lot simpler.

  18. Anuj S. January 28, 2014 at 5:11 pm # Reply

    I am heterozygous CT genotype. What does this mean?
    My doctor wants me to take Deplin 15 and methylcobalamin subcutaneous injections.
    I am dealing with neuropathy, insomnia, fatigue and depression.

  19. Shannon February 4, 2014 at 3:06 pm # Reply

    I am having trouble understanding what, exactly, the mutations are. I have AA at C677T, and TT at A1298C.

    In a user thread on 23andme, C677T/AA is flagged as being troublesome; A1298C/TT is not.

    “The Name Game” from the page at http://genetics.thetech.org/ask/ask425 says that there are two variations at position 677, C and T (hence C677T). Likewise at 1298, A and C. So how do I have As at 677 and Ts at 1298? And why is only one of those a problem?

    Help! I am so confused…

    • Shannon February 4, 2014 at 3:36 pm # Reply


      While 23andme gives AA for C677T, as does Yasko, Promethease gives TT
      While 23andme gives TT for A1298C, as does Yasko, Promethease gives AA

      All three flag that 677 as a problem. All three call the 1298 result good.

      All three are looking at the same raw data.

      Does Promethease invert the call (A->T, C->G, etc) to give their result? Which result should I give a physician if asked about it?

    • mark February 21, 2014 at 1:56 am # Reply

      I have exactly the same alleles at C677T and A1298C and have been confused by exactly the same thing!

      Must be a simple explanation… anyone?

      • Cathy July 28, 2014 at 8:17 pm # Reply

        Simple explanation: Bases in DNA are paired. So A pairs with T and C pairs with G.

        The result you are getting may be due to which strand of the DNA was sequenced through the 677 and 1298 sites in your test. The forwards strand would have C (or T if you have the mutation) while the reverse strand should have G (or A if you have the mutation.

  20. Patti April 29, 2014 at 8:45 pm # Reply

    Dear Dr. Stein,

    I was recently tested and have the A1298C Homozygous mutation. My sister has the compound mutation. My son has the compound mutation. How would I have two copies of the mutated gene and my sister only have one of the 1298 mutation? Could my test be wrong since my son has both as well?

  21. Mike May 7, 2014 at 6:59 pm # Reply

    I’m confused my 23andMe report says I have the following:

    MTHFR C677T rs1801133 A AA +/+

    The “+/+” is in red. I couldn’t match this to your table above. How many mutations am I?

  22. Mike May 7, 2014 at 7:03 pm # Reply

    Here’s more information:
    dbSNP Orientation: Minus
    dbSNP Genotype: TT
    Also, would there be any benefit to getting the following additional test from Quest Diagnostics?
    Methylenetetrahydrofolate Reductase (MTHFR), DNA Mutation Analysis: Quest Test Code: 17911
    Or, do I have everything I need from my 23andMe test?

  23. Terry May 14, 2014 at 11:35 pm # Reply

    Dr. Ben:
    Just a simple (and maybe not so simple to answer) question:
    What kinds of physical problems does this mutation cause?
    I have a friend who is being tested for this because she suffers from much fatigue, which could be related to thyroid or adrenal issues. Could you elaborate a bit on what impact this mutation has on the body? Thanks!

  24. Julia May 20, 2014 at 3:23 am # Reply

    Hello, and thank you for making yourself available to answer questions.

    1. My tests have thrown me a curve ball. They came back as homozygous for C677T and Heterozygous for A1289C.

    My doctor hasn’t seen this before, and none of the information I can find mentions it either. Is it as rare as it seems? As far as getting educated and for advice, should I just be looking at information on compound MTHFR mutation?

    2. We have just about every condition that could be associated with MTHFR mutation in my family, but I only recently heard about it and I am the first one to have been tested. Am I correct to understand that both of my parents must have the 6776 mutation, and at least one the 1289? So should my Aunts and Uncles should also be going for testing as well as their kids?

  25. Sarah May 20, 2014 at 6:06 am # Reply

    Julia, from what I understand 44% of the population has hetro C677T and 12% has A1289. I have C677T from my mom and A1289 from my dad…that makes me compound Hetero…I am not sure how many people have homo C677T, but if 44% of the population has at least one copy of it, you would think that it is more common than one would think…but to be homo C677T and hetero A1289C … that is interesting … do you have clotting issues, fertility issues … I know you said your family has almost all of the symptoms … I only ask because I have fertility issues and that is how I found out … have they checked you for clotting disorders … that seems to be the most dangerous one that comes to my mind … I am sure one of the admins can make heads or tails of this and also tell me if my info is correct. I haven’t received feedback on this forum from an admin…I am going back into fertility treatment so any info about any of your questions, mine or anyone else’s would be great…hint hint…don’t panic … read this site and add methylfolate and methyl B12 and watch out for pain associated with opening your methyl pathways…if that happens then take niacin…I didn’t know that when I did it…good luck :)

    • Julia May 20, 2014 at 10:55 pm # Reply

      Hi Sarah, thank you for taking the time to reply.
      Due to having been sick with ‘fibromyalgia’ most of my life, and seeing that my relatives were all sick I felt that my kids chances of being healthy were slim to none, so haven’t tried to have children. I have always had problems with my menstrual cycle and hormonally fit the profile of PCOS although ultrasounds have only shown a couple of minor cysts.

      Fertility was an issue for my mum, the doctors told her that it was a miracle she ever carried a child, and that she had four of us was astounding. She had to have a hysterectomy in her early 30’s due to hemorrhaging causing constant anemia. Mum has problems with clots and has thrombophlebitis, vein inflammation. My sister also has problems with clots, she’s currently dealing with some in her lungs. My doctor want’s me to have scans done to check my lungs and brain for issues due to shortness of breath and neurological symptoms, so I guess that should get covered. A test for von-willebrands has been ordered, but I’m not sure that is the right sort of blood test.

    • Heather May 21, 2014 at 3:42 pm # Reply

      Hi Sarah & Julia,
      I’ve been looking for answers for a long time. I am compound hetero as well. I don’t know which copy came from which parent.
      I’m worried about my son who has not been tested. He has shaky hands all the time. That scares me and no one knows why.
      I’ve had problems with clots – had to had veins stripped out of my leg. Was told I have PCOS. I have shortness of breath. Had cervical cancer. Suffer with anxiety along with depression. I am in pain all the time, muscle pain, headaches ALL the time..to name a few. Sister had an ablation because was causing anemia & she had fertility issues as well. Father passed of brain cancer.
      What are you taking exactly and how has it helped?

    • Heather May 21, 2014 at 3:56 pm # Reply

      I don’t think anyone AKA – admin… Reply to anyone on here. I think he just try to sells his vitamins or something.

      Also wanted to tell you.. My sister did have fertility issues. Took her awhile to have her first child without any help from the doctors, she did want more children and wasn’t happening so she did do fertility and she got pregnant with twin girls. She has 3 healthy kiddos!

      I have one child but that’s all I tried for and I wasn’t trying ( if you know what I mean )

      I’ve read a lot about PCOS and with it is fertility issues. My doctor treats PCOS and his office is filled with pictures of babies who when prescribed Metformin – for some reason, ( I’m no doctor ) they get pregnant.

      Just thought I would mention this.

  26. Annmari Cooper May 30, 2014 at 4:38 pm # Reply

    I have just received some blood work back, as my PCP is trying to figure out why I am so sick and having daily terrible headaches among other things. The lab results came back saying” Two mutations (C677Tand A1298C) identified. I have not yet been contacted back from my doctor as to what that means if anything for me. I was just researching on my own to see if I could figure anything out, however, I am just now more confused.


  27. Katherine June 11, 2014 at 6:17 pm # Reply

    I did the 23andMe testing and have AG for C677T and GT for A1298C. I believe this means I have the mutation, although I am still unclear about most of this. Can you describe in layman terms what this means for me? Many thanks.

  28. Karen June 18, 2014 at 12:25 am # Reply

    Hi I was just told I have the MTHFR ( A1298C) so I am guessing from reading on here I have the Heterozygous. Is that right? I do not understand all of this and I am so overwhelmed by this. My Dr. put me on a medicine food called Podiapn because I can not afford the L-methylfolate. I am disabled and Medicare nor Medicaid will pay for this. Is this safe to be on?? I met a person who has the same mutation and she has never heard of Podiapn and she said on your website you don’t recommend presciptions for this. Any info you can give me would help me so much. I know I have more questions but was wondering about this. I go to my Dr this Friday June 20,2014 and will try to get more info from her. Thank you for an help you can provide…..

  29. Robin McStay August 13, 2014 at 8:41 pm # Reply

    Hi Dr. Ben,

    My son is eight years old and has a complex medical history.

    He was apparently normal until he was approximately two years old, then began having some “autistic like behaviors”, absence seizures, gelastic seizures, and eventually a full range of drop seizures, status, and severe cognitive loss. He was first diagnosed with Lennox Gastaut Syndrome, but ultimately diagnosed at Lucille Packard with a Hypothalamic Hamartoma.

    The hamartoma was resected at Barrow Neurological Institute in June 2010, and he has been seizure free since that time. His cognitive decline stopped and he has made many strong advances, but he has not recovered.

    He has several comorbid symptoms that I wonder if the cound be attributed to MTHFR. he has a lisch nodule in his eye (as I understand, NF1 has been definitively ruled out). He is very large in stature, above the very top of the growth chart for both height and weight, though his testosterone levels have not yet started to increase. His appetite is that of a grown adult, but he does not accumulate extra body fat. He is not diabetic or hypertensive. His sweat smells VERY STRONGLY OF AMMONIA.

    In addition to cognitive impairment, he also has problems with emotional dysregulation, and he has certain OCD and ADD/ADHD and anxiety symptoms.

    Thank you for your opinions on this matter.

  30. Anne August 31, 2014 at 12:47 am # Reply

    my Spectracell test says A1298C Heterozygous
    not AC or CC

    What’s this?

  31. Lauri Ongley November 9, 2014 at 11:22 pm # Reply

    I recently found out that I have mthfr C677T and A1298C so I know I passed it on to my daughters. My youngest was told to take folate and did so for about 2 years. I know it wasn’t the methyl form of folate. Could it have harmed her to take it? Thank you for your help.

    • Heather November 13, 2014 at 3:54 am # Reply

      I am compound heterozygous.
      From my understanding is that you get one copy from mom or dad..
      Doesn’t exactly mean they will have the same mutation , if any.

      My sons came back compound homozygous and from what that doctor told me he got one copy from me, one copy from his father.

      Someone please correct me if I am wrong.

      I have been told ridiculous stuff from misinformed doctors, what you can do is read Dr. Lynch’s information and YouTube videos. I have received no help from doctors in my area.

      I recently called a doctor and asked flat out, plain and simple if he could help me as I absolutely feel a lot of what I am going through has a lot to do with MTHFR and I want that route deeply explored by a qualified physician.
      I made tons of calls and finally this doctor said yes. A week later I’m sitting in his office and he is telling me my two copies that have me positive actually cancel each other out, like a math equation, which makes me normal after all.
      Well. Well. Well. I’ve never heard of this before I say !
      I was his last patient of the day. Just him and I. He had no intention of helping me or do anything for me.
      I started crying in his office at which point he told me it was time for me to go.
      He billed my insurance for 600.00 for about 7 minutes of his useless time.
      I was so upset I could hardly drive home.
      I’ve been trying to find a doctor for two years.

      All I can do is hope and pray a doctor like Dr. Lynch will come along , a doctor who actually cares.

      I mean no disrespect to the doctors out there that do care.

  32. Jennifer November 25, 2014 at 10:25 pm # Reply

    Dr. Ben,
    After a miscarriage, and almost dying from blood cots after my second pregnancy and my half sister’s son having a stroke at the age of two. Our family began genetic testing. My sister, my nephew, my niece, my mother, and one son all have Factor IV Leiden and MTHFR. I also have another child who was only diagnosed with the MTHFR. I have been prescribed Foltx to take daily. Neither of my children have been prescribed any type of daily regimen. During pregnancies, I had to see a high risk OB along with my regular OB and take Lovenox injections every 12 hours in my stomach, towards the end of pregnancy, they switched me to Heparin injections every six hours. I had twins that arrived 8 weeks early, but are healthy. One twin did not inherit either, and the other inherited both. Then I had another pregnancy, did the same regimen, and he came about 5 weeks early, he is healthy, but got the MTHFR mutation. How important is if for me to know the details of our mutations? I was not given that specific information, but I was diagnosed over 10 years ago and VERY FEW medical providers had even heard of it. To this day, it’s getting better, but most look at me like “huh?”. I would appreciate any information you can offer.

    Thank you,

  33. talia hewitt December 27, 2014 at 2:48 pm # Reply

    Hi iv had 1 stillbornhe was 41+1 weeks 2 misscarages 1 complete the other I had the D&C opp I have this gene and also my partner I am on B6 B12 B1 and also megafol5 and just need help as I want a baby and its getting me down as its all I ever wanted for the last 3 years
    Thank you

    • Dr. Roy Dittman December 30, 2014 at 6:19 pm # Reply

      Hi Talia. I am so sorry for your loss. I would like to recommend that you read my book, Brighton Baby. It is available at BrightonBaby.com. It is over 1,000 pages long and goes through preconception and provides lots of great insights for how to prepare your body for a healthy pregnancy. Wishing you great success and love.
      Dr. Dittman

  34. Alicen February 12, 2015 at 7:48 pm # Reply


    About 3 years ago randomly one night i woke up with what i thought was a UTI as i have had many in the past. I went to several different doctors and a UTI infection was no where to be found in my urine sample. Finally after many doctor and ER trips i was referred to a Urologist. They diagnosed me with IC. At about that same time i randomly woke up in the middle of the night with the worst cramp in my calf that i have ever had. No warning signs earlier in the day, nothing. The cramps and the bladder problems have not stopped ever since that day. I CONSTANTLY have twitching in my legs and feet and cramp to the point that i cannot move or walk. I have had to be carried out of stores, stuck in positions that i cannot move, etc because the cramps are so intense. I had several nerve conduction tests done, all coming back with the result of “over active nerves” but no further diagnosis. I have been turned down by doctor after doctor after doctor because while my symptoms are there, no one knows why this is happening. I also get tingling in my feet occasionally. I have had MIR’s done on my spine and brain and they all came back normal. I have had labs done to test for low vitamin levels, liver tests, etc. My liver test came back a little abnormal and they also have no answers for that. I have been on 900mg 3x a day of Gabapentin and also 20mg of Baclofen 3x a day for the last 2 or so years. My urologist is the only doctor that seems to care, and is trying to help me figure out my leg cramp/twitching issue even though that is not necessarily in her field. She recommended me to your site, and i am hoping you might have some answers. I have not had the blood work done for the MTHFR that i see most people talking about on here. I also have severe anxiety and have addiction issues 4.5 years ago. I am 100% now and do not drink or anything else. My urologist wanted to start doing more blood work since my symptoms have suddenly started to get worse. Do you think getting tested for MTHFR is something that i should do based off of my symptoms? Desperatly looking for a doctor that is willing to help and point me in some sort of direction to figure this all out. I am in constant pain and cannot do certain activites that i was once able to do. 25 year old female. 1 ectopic pregnancy 4 years ago before any of my other symptoms started to occur. My right side falopian tube has been removed. Please, any suggestions would be greatly appreciated.

    • Dr. Roy Dittman March 21, 2015 at 8:36 pm # Reply

      Hello Alicen,

      Not knowing much about your case, I would suggest looking into having a hair mineral analysis done and interpreted by an experienced practitioner. I would guess that your calcium-mineral ratio is off and that you have a copper-zinc imbalance. This can affect the nervous system and your muscle relaxation response (among other things). It would at least give you a good first map that could lead to other things. Also, have you been tested for heavy metal toxicity, in particular aluminum and mercury? Quicksilver Scientific has a Mercury Tri-Test which is able to better assess mercury burden through fish, vaccines, mercury amalgams, and other environmental exposures. This can profoundly affect the nervous system and trigger an underlying copper-estrogen-candida imbalance.

  35. robin March 18, 2015 at 4:02 pm # Reply

    I have tested positive for mthfr because i was anemic and my b levels were past 2000. i am now on methylated b vitamins..

  36. Penelope March 30, 2015 at 12:59 am # Reply

    Hi Ben,
    I got told I have heterozygous C677T. I have Spina Bifida and need to take 5mg folic acid. I am now on methyl form compound vitamins.
    do I need to avoid all B vitamins and all supplements that have them (even if they are in there in small amounts)? And take 5mg folinic acid instead of Megafol?


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