MTHFR Mutations

What Is MTHFR?

MTHFR is an abbreviation for the name of a gene, 5,10-methylenetetrahydrofolate reductase,  found on a specific chromosome within every cell in the human body.

The MTHFR gene produces an enzyme which plays a role in the production of proteins and other important compounds. When the MTHFR enzyme is not working as it should, homocysteine levels increase, which can lead to inflammation in blood vessels and the increased risk of microscopic clot formation.

It is estimated that up to 1 in 4 women have what is known as an MTHFR Mutation.

Signs and Symptoms of the MTHFR Mutation related to pregnancy include:

  • Multiple miscarriages
  • Recurring loss of the baby in mid-pregnancy and the inability to bring a baby to term
  • Pre-eclampsia or extreme high blood pressure
  • Neural tube defects – birth defects of the brain, spine, or spinal cord, which occur in the first month of pregnancy. The two most common neural tube defects are spina bifida and anencephaly.

MTHFR Mutation can also present problems that appear during birth or after the baby is born, such as:

  • Premature birth
  • Low birth weight
  • Congenital heart disease
  • Downs Syndrome
  • Autism

At this time, medical research has not found a clearly defined link between the MTHFR mutation and the effects described above, or a specific method of treatment. It is principally believed that the cause may be related to clot formation between the developing placenta and uterine wall. This is primarily a problem encountered during early pregnancy.

 If a woman has been identified to have the MTFHR mutation, some physicians will prescribe daily injections of anti-clotting medicines Heparin or Lovenox during the first trimester in order to prevent clot formation. A daily low does of aspirin may also be part of the preventative measures taken.

Folate and Folic Acid

Folate plays and important role in reducing Homocycteine and it is known that the MTHFR mutation can interfere with the function of Folate in the body.

Folate is often added as a dietary supplement to insure iron levels are sufficient and to reduce risk of high Homocycteine levels, but it must be understood that folic acid is not the same as folate. Folic Acid is the synthetic form of folate. When taken as a supplement, Folic Acid can actually block a woman’s ability to absorb and assimilate natural folate and methylfolate.

Unfortunately, not all women with MTHFR may be able to process methylated vitamins, and in some cases they may even experience bad reactions. If testing shows you are a person with the MTHFR mutation, be sure to work closely with your health care provider to determine which supplements are the best choices for you and to monitor your reaction to them.

It is also possible to take too much or too high a dosage of  your methylated vitamin supplements.
Symptoms of overmethylation include:

  • Anxiety
  • Heart palpitations
  • Irritability

MTHFR gene mutations are inherited.

The good news here is that if there is a family history, early diagnosis may prevent the disappointments of miscarriage, the trauma of losing a baby during pregnancy, and the issues that can present themselves after the baby is born.

For more information and to be a part of an online community of people with MTHFR, check out the blog MTHFR Living.

Currently, there are products available that “skip ahead”, providing folate that is biologically active, not needing the conversion via the MTHFR enzyme. We recommend L-5methyltetrahydrofolate or L-5 methylfolate via a prescription strength prenatal vitamin, or L-5methlytetrahydrofolate (L-5-MTHF, L-5 methylfolate) obtained OTC or through a host of different companies.  But look for pure ones, not blends containing R-5-methylfolate.

In the Mother

Pregnant women are more prone to blood clots, for example, which are generally a risk when a person has elevated homocysteine. As we know, excess homocysteine is a common side effect of MTHFR mutations. High homocysteine can also cause pre-eclampsia and miscarriage, which I’ll discuss a little more in the next section. It is important to note also that, according to leading MTHFR researcher Dr. Ben Lynch, it isn’t enough to just look at homocysteine levels when dealing with pregnancy complications and loss. Sometimes a patient may not have an elevated serum homocysteine level, but still may have issues due to MTHFR. MTHFR mutations must be identified and addressed in order to achieve optimal results. Untreated MTHFR also puts women at a higher risk of postpartum depression.

In the Father

A father’s folate status and diet have been found to be important in preventing birth defects and other diseases in offspring. So be sure he’s methylating adequately and getting the proper nutrition prior to conception.

Folate versus Folic Acid

It is especially important to avoid folic acid, which is the synthetic form of folate, if you and/or your baby has MTHFR gene mutations. This does not mean that you shouldn’t consume folate. Synthetic folic acid cannot be converted properly to methylfolate and blocks the folate receptors in people with MTHFR. Try taking methylfolate instead, as recommended by Dr. Ben Lynch in this article.

What if I’m having trouble becoming or staying pregnant?

MTHFR has proven to be a common factor in both infertility and pregnancy loss. Unfortunately, many of these miscarriages are recurring and this can be due to other genetic factors influencing repeat pregnancy loss (RPL). As Dr. Lynch points out, it will be important to test both the father and the mother in these cases.

Egg quality can also be an issue for women with MTHFR. This is not to say that MTHFR has a direct negative impact on egg quality, but people with untreated MTHFR often have other chronic conditions that affect them. These things can cause problems with egg quality (I will cover most of them in my ‘Things That Plague Us’ series, which has just begun). New research has determined that the father’s MTHFR status can also play a role. MTHFR has an effect on fetal viability and can also be a contributing factor to stillbirth. So if you are suffering from infertility or RPL, it is important to be tested for MTHFR and other genetic problems, and be sure that you are tested correctly. As Dr. Lynch recommends, a test for plasma S-adenosylhomocysteine may be necessary. In the last section I’ll talk more about some other things to test for and be aware of.

What steps can I take to compensate for MTHFR enzyme deficiency?

The good news is that there is a lot that you can do to ensure healthy outcomes for you and your family when trying to become pregnant. The first thing will be to ensure that you and your partner are methylating properly and receiving the correct nutritional support.

Prenatal vitamins

I shudder every time I read about a woman being prescribed Folgard for her MTHFR mutations. That recommendation is based on outdated information, which would indicate that high-dose folic acid is the appropriate way to treat MTHFR gene mutations. Folic acid and the non-methylated forms of the B vitamins provided by this supplement are not appropriate for anyone with MTHFR gene defects. Instead, you can find several other formulas that will provide the support you need (assuming you don’t have other genetic mutations that prevent your tolerance of methylated vitamins – I’ve discussed this elsewhere on the blog).

I’ve tried three of these prenatal vitamins myself. The first was Neevo, which I didn’t like for several reasons. First, it’s very expensive if your insurance doesn’t cover it (and many don’t because it is considered a nutritional supplement). Second, Neevo is not a complete prenatal, which means that you would have to supplement other vitamins to get the proper nutritional support. With the high cost of Neevo that didn’t cut it for me. I expect to get vitamin A, zinc, manganese and more calcium in my prenatal, at the very least. Finally, you know I’m into the all-natural, so I see no need to have artificial colors added to any of my vitamins, which Neevo has. I also don’t want soy. Next.

I took Thorne’s Basic Prenatal for a couple of months but that didn’t do it for me either. I wasn’t happy with the vitamin K1 (I still haven’t figured out whether K1 would be contraindicated for those of us with MTHFR and, hence, a higher risk of clotting) and chromium picolinate. Some women also cannot tolerate the amount of iron (45 mg) in Thorne’s Basic Prenatal either. Luckily, Dr. Lynch has formulated two awesome new prenatal formulas in his Seeking Health line, which I have been taking for the last month and a half with no issues so far. The Optimal Prenatal formulas contain both folinic acid (not the same as folic acid) and methylfolate, two forms of active B12, two forms of vitamin A (the second to assist those with the BCMO1 snp), all the other required and active forms of B vitamins, Betaine HCl and additional herbs and nutrients. Note that there is no iron or fish oil in this formula so if you need those (and a good fish oil is highly recommended), you’ll want to add an additional supplement. The Seeking Health prenatal supplements come in both capsule and powder form.

To Lovenox or not?

This is the question on the lips of many a MTHFR sufferer. Do I need daily injections of a blood thinner during my pregnancy? From everything I’ve read the answer seems to be that if you have homozygous mutations: possibly; if you have RPL: probably; if you have MTHFR mutations plus other diagnosed thrombotic issues: definitely.

I saw my maternal fetal medicine (MFM) specialist several weeks ago to discuss these matters and to review the results of some thrombotic risk tests that my MTHFR doctor had ordered. I was tested for a number of thrombotic activities and came up with only the MTHFR and very slightly elevated anticardiolipin IgM antibodies. Based on this and my other fertility issues, both the MFM and my new reproductive endocrinologist have agreed that I should proceed with only baby aspirin and progesterone supplements in the luteal phase. I couldn’t seem to get anyone to test for anything further and at the moment I’m trying to just accept the good news and not worry too much about what they might be missing. There are many different tests that a woman facing infertility and miscarriage would want to have performed, which are not within the scope of this blog post to discuss (check out the book Is Your Body Baby Friendly by Dr. Alan Beer for starters). For me, it’s just the one miscarriage and no other known thrombotic issues (fingers crossed) and we’ll see what happens next.

But many women with MTHFR do need additional medication such as Lovenox to carry to term and it’s alarming that so many doctors refuse to prescribe it. A few physicians, such as Dr. Stephen Wells and Dr. Alexander Kofinas have this treatment in their MTHFR protocols. Dr. Kofinas explains his reasoning in this paper, Why Low Molecular Weight Heparin Prevents Most Severe Pregnancy Complications. Initial scientific research for homozygous C677T cases supports this opinion. Dr. Lynch explores this subject more on his website as well. In the next section I’ll discuss some additional situations where you might want to find a doctor who is willing to explore this preventative treatment with you.

What else should I be aware of and thinking about?

I’ve tried to keep this post centered on the special circumstances surrounding MTHFR parents, however, I want to remind everyone of the fundamentals that one would find in even the most elementary prenatal books. Sometimes we get so caught up with all the MTHFR stuff we have to think about that we can forget about the basics!

First of all, protecting yourself against foodborne illness is important because pregnant women and their fetuses are at higher risk due to weakened immune systems. Eat a well-balanced diet and stay well-hydrated. Avoid eating fish that are high in mercury, such as shark, swordfish or tuna. Don’t use alcohol, drugs or tobacco and avoid secondhand smoke. Review your prescription and over the counter medications and herbal formulas for safe use during pregnancy (or use at all). Avoid environmental pollutants and limit the amount of stress in your life. These are just a few of the most common tips for all pregnant women.

Other genetic mutations

Those of you who have been exploring your genome in more detail will probably be aware of the potential problems you could encounter during pregnancy. But if you’re only focused on methylation defects at the moment, there are some single mutations or gene families that you may want to look into, particularly if you’re having problems with RPL.

Prothrombin gene mutations can act alone or with MTHFR to increase the risk of blood clots. As discussed in earlier sections, these can cause infertility, miscarriage or serious health complications for you and your unborn baby. A common mutation is Factor V Leiden, which can cause deep venous thrombosis, pre-eclampsia, placental lesions, miscarriage and other obstetric complications, with the risks increased 80-fold for those patients who are homozygous. Lovenox may be required in these situations.

Another commonly run panel detects cystic fibrosis allele mutations as many people are silent carriers of this gene. There are, of course, many others, but too many to name.

Thyroid function

As many of us with MTHFR also suffer from thyroid problems, you’re well-advised to have a basic thyroid panel run at least a few months before you try to conceive. Tests for Free T3, Free T4, TSH and antibodies are commonly run by general practitioners and endocrinologists if you ask for them. Interpreting them correctly and getting adequate treatment may be another battle, but it would be wise to correct any thyroid dysfunction prior to becoming pregnant. Pregnancy presents special challenges for thyroid patients and a lack of thyroid hormone in the mother during pregnancy can have serious implications for babies.


Here is a link to the Folic supplement I recommend for my clients:


Comments are closed