5 MTHFR Defect

So both of my daughter’s, including the one with SB, tested positive with the 5 MTHFR defect last Friday. Though my ND didn’t call it that by name. They both did the 23andMe.com genetic test. She explained it as a missing “snip” or Single Nucleotide Polymorphism (SNP).

Coincidentally, the day we got home from the test I saw an old post on Baby Center linking this defect to SB.

Unfortunately, the morning after our appointment, our ND left for a one month trip to Cambodia. But now I have so many questions. I have googled it a bit and even visited the Baby Center group, “MTHFR & Infertility,” but it is all so confusing. I wish I had asked more questions.

Do any of you know much about this defect and its link to SB? All I know is that the body cannot convert folic acid to folate which is crucial for various bodily functions.



  • I took the test and was positive for MTHFR C677T which I believe in the most common of the mutations. I believe 40% of all ppl have this type of mutation so for us its clearly not the smoking gun as to the cause of SB. However, I take the metabolized folic acid just to be safe (in case of unplanned pregnancy)–I have not noticed it effecting my general health in any way.

  • I think there are still so many unknowns about the link between folic acid (and the MTHFR mutation) and SB. I was not on folic acid (or even prenatal vitamins, yikes!) when I became pregnant with my first child (nonSB) as she was a surprise. I was on prenatal vitamins for years prior to my second child (SB). Go figure….

    I did hear a statistic that the addition of folic acid to prenatal vitamins and higher amounts in food (it is added to a lot of bread, etc) reduced the incidence of SB by about 70%. This happened in the 1970s. This was also the exact same time that prenatal ultrasound became widely available. Thus, prenatal diagnosis of SB became available. And, statistics show that about 65% of pregnancies are terminated at the time of diagnosis (sad). So – who is to say that the “incidence” of SB was reduced by the addition of folic acid or by the termination of pregnancies?

    Either way, I am also taking 4 mg of folic acid daily just in case of an unplanned pregnancy. I don’t think it can hurt, it might help, and until more research is done to prove or disprove the link between folic acid and SB, I think that all women of child bearing age should be taking prenatal vitamins (at minimum) and eat a diet rich in folic acid.

  • So I see this term all over the archives of Baby Center, but I actually had no idea about any of this. I had seen the MTHFR acronym on Baby Center before, but I thought it was a genetic test done on the baby through amniocentesis and I had absolutely no interest, so I always ignored it.

    Then my ND had my daughter’s take the 23andMe test that she recommends to all her clients (nothing to do with SB). Both tested positive for the MTHRF SNP. By chance when I got home from her office, someone had posted on a really old post that talked about this gene and its possible connection to SB. I had no idea. It was a total coincidence for me at the time. Before seeing the post, I hadn’t even recognized the test results as being the same acronym I had ignored on Baby Center. I saw it and said, Wha? OMGosh?

    So all this to say, what’s the story with this test. I’ve read a bit about the MTHRF mutation, but don’t understand its connection to newly diagnosed SB moms. Do MFMs recommend the test? And if so, why? If you test positive, then what do they say/do?

  • My knowledge of all of this is very spotty at best but here is my best understanding: the MTHFR mutation means that your body has a hard time metabolizing folic acid (I think technically this is incorrect but the easy way to explain it) and therefore, the mutation would lead to a higher risk of having a child with SB. Taking more folic acid is not enough if your body can’t break it down.

    There are different versions of the mutations. I tested positive for the C677T but negative for the A1298C. The A1298c is associated with heart conditions and other health problems. I know that c677T is the most common and least problematic, So, I am not sure if it had anything to do with SB in our case since I believe this mutation is very common in the general population.

    My doctor still advised me to take metabolized folic acid (I really don’t think she has any clue whether I really need it). I am still unclear if I need to be taking it but do so just to be safe. In case I get pregnant, I took Neevo DHA for awhile but it is expensive and I recently switched to a regular prenatal, extra vitamin B (I think this has something to do with the absorption/break down of folic acid), and “Methyl Folate L-5-MTHF”, as well as the extra regular folic acid.

    I really am still confused about it all so someone feel free to contradict me. 🙂

  • But why did you get tested? Was it because you got the SB diagnosis?

    It actually means your body can’t convert folic acid to folate. So you are supposed to be taking “folinic” acid or folate or specificaly L-5 MTHF . My L-5 MTHF lists “folate” under the supplement facts.

    And I think it is serious. I will ask my ND more when she gets back. But your body needs folate because it is used in the production of SAHM, which is essential to your body’s function in general. She had this big flowchart with so many circles and arrows that my head was spinning by the end. So I only have a spotty understanding as well. It didn’t help that her flight to Cambodia left at 5am the day after our appointment. Now I have to wait a month for clarification. But she made it sound very serious if you can’t get folate to make SAHM.

  • I was tested at with my OBGYN after I read posts (probably the baby center) and wanted to make sure I was taking the correct type of folic acid. I tested after Claire was born–I have not had her tested.

    I think the only thing “to do” is just to take the folate. So, regardless of which mutation, you just take the extra supplement. If I’m missing something and your ND has more info, let me know. 🙂

  • I haven’t been tested. I’m not sure I will bother, but it is interesting. Especially, to my mind, for those of us who had several non SB kids BEFORE our SB baby. I read something that suggested that babies born fairly close together were at risk because you didn’t have the chance to rebuild stores of the stuff. I have no idea how valid that is, but my Littles are very close (barely 2 years apart) so maybe… And maybe that has nothing whatsoever to do with it, in our case.

    I sort of agree with Camilla. If the answer is always to take folate, I’m not sure the test matters so much. ???

    In any case, I also think it is funny that you say “your body needs folate because it is used in the production of SAHM”. In the online world I inhabit outside of this SB one, SAHM means Stay At Home Mom. I had no idea you needed more folate for that !!

  • Ha, that’s funny. And I double checked and the “H” was all in my mind. Must be the stay at home mom brain! So it is just SAM.

    I find it interesting that the best article I can find on the subject is on the Stop The Thyroid Madness website. I swear their is a connection between thyroid function, folic acid and SB.

    Anyways, they describe our buddy SAM as follows: “Methionine is converted in your liver into SAM-e (s-adenosylmethionine), which is anti-inflammatory, supports your immune system, helps produce the breakdown of your brain chemicals serotonin, dopamine and melatonin, and is involved in the growth, repair and maintenance of your cells. i.e. a proper methylation pathway like the above is going to mean you will have a better chance in eliminating toxins and heavy metals, which can reduce your risk for cancer and other health issues, and put less stress on your adrenals.”

    The article goes on to suggest helpful supplements, avoiding foods high in folic acid and warns against heavy metal toxicity.

    This article pretty much sums up what I got from my meeting with my ND, which was that this gene mutation along with the others that showed up on my daughters’ tests put them at risk for all kinds of problems in their futures (including cancer) unless they are vigilant about supplementation. But like I said, this was not their only mutation or bad SNP.

    The article is definitely worth reading, especially the second half which gives advice on how to best deal with this mutation.


  • I wanted to update on what I’ve learned about methylfolate dosing since my ND returned from her trip. She has the women in our family slowly dosing up each day until we experience methylfolate side effects at which point we will take niacin to address the side effects. Then we will go back down a dose and stay there. That will be our dose.

    Here is an article on determining dosage:


    And another on potential side effects:


  • Very interesting. I am, or at least have been, a devotee of the Stop the thyroid Madness (its what got me taking Armour). And Niacin is something I have taken in the past for thyroid. Curious to see it tied in here.

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