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How to Deal With MTHFR and Infertility

An image of a woman sitting on the bed with a negative pregnancy testInfertility is a growing problem in the modern world for a number of reasons. And some of them have to do with MTHFR mutations. These gene mutations are found in around 40% of the population and can impact your chances of getting through a pregnancy successfully. But while you can't change your genes, by making lifestyle changes and taking supplements you can help improve your chances of a successful pregnancy. Here's our guide to how to deal with MTHFR and infertility.

What is MTHFR?

MTHFR is short for methylenetetrahydrofolate reductase, an enzyme that’s controlled by the MTHFR gene in the human body. This enzyme helps process amino acids and helps convert folate to folic acid, a chemical process known as methylation. Methylation is crucial for the health of your brain, hormonal balance, cardiovascular health, and your immune system.

There are many different types of MTHFR mutations, each associated with its own effects and health issues. Overall, mutations in the MTHFR gene can cause reduced enzyme function. These kinds of gene variances are found frequently in women who experience infertility and are associated with fetal development problems such as:

  • Down’s Syndrome
  • Autism
  • Spina bifida
  • Miscarriage
  • Blood clotting irregularities

The effects of MTHFR mutations can vary widely from person to person. In fact, many people with mutations don’t experience any symptoms or health problems at all. If you have a MTHFR mutation, you don’t necessarily have to try to address it. It all depends on your body and on any issues that you experience because of the gene mutation. However, there is a link between MTHFR and infertility, so if you’re having problems, then you should consider looking into a possible connection.

Health Issues Connected to MTHFR Mutations

Aside from the link between MTHFR and infertility, these gene mutations are also associated with other health problems. One of the most problematic has to do with homocysteine. Certain MTHFR mutations cause homocysteine levels to rise in your body because of incorrectly processed folate. This can increase the risk of health problems like high blood pressure, blood clotting, stroke, and pulmonary embolus.

MTHFR mutations are also associated with:

  • Mental illnesses such as schizophrenia and anxiety
  • Chronic pain
  • Chronic fatigue
  • Increased risk for cardiovascular disease
  • Decreased ability to detoxify
  • Hormone imbalance

The Link Between MTHFR and Infertility

There is a link between MTHFR and infertility in both men and women. Methylation is important for tissue growth and cellular development, so it can disrupt the growth of the egg and endometrium, preventing egg implantation during the menstrual cycle.

Methylation and folate metabolism are also essential for a healthy hormone balance and breakdown. Problems with these processes can cause a variety of issues with hormone levels such as low progesterone levels during the luteal phase, low estrogen during ovulation, and ovaries that are less sensitive to the follicle-stimulating hormone during ovulation. All of these issues can affect female fertility.

Methylation is also important for sperm formation, development, and viability. Some studies have shown that impaired methylation may affect sperm count and fertility, though more research is needed into this link.

Methylation, Folate, and Neural Tube Defects

MTHFR variations are also closely linked to neural tube defects (NTDs). NTDs are congenital malformations that occur when the neural tube fails to close. The neural tube creates the brain and spine and develops very early during pregnancy. As a result, NTDs can occur very early in pregnancy, even before a mother is aware that she's pregnant. NTD can be very serious, causing significant physical and mental issues.

Studies have shown that supplementing with folic acid can help to lower the rate of NTDs, although the exact nature of the link between folate and NTDs isn't yet fully understood. However, the success of folate supplementation in lowering NTD rates suggests that MTHFR variations, which can cause issues with methylation, may put pregnant women at increased risk of NTDs.

Should You Get Tested for MTHFR Mutations?

An image of a pregnant woman with the word miscarriage spelled out in wood blocksMTHFR mutations are also associated with other serious health problems. If you experience any of the following, then you may need to get tested for MTHFR mutations:

  • Multiple miscarriages
  • Infertility
  • Failed IVF
  • Blood clotting issues
  • A family history of heart attacks
  • A family history of addictions or mental illness

How to Address MTHFR Mutations with Supplements

You must see a doctor to get tested for MTHFR mutations before taking any actions. They will be able to give you an individualized plan that will help address your specific condition and mutation. However, because of the link between MTHFR and infertility, you may also talk to them about helpful supplements and lifestyle changes.

It's also important to remember: you should always try to get all the nutrients you need from food before supplementing. Food sources are less likely to cause interactions or reactions and come complete with other nutrients that your body needs.

However, if you need to supplement for this condition, these are some of the best supplements to try.

Folic Acid

Supplementing with 400 – 600 micrograms (µg) of dietary folate daily can be helpful for MTHFR mutations. Your doctor may also recommend a pharmaceutical dose of 4 – 5 milligrams (4000 – 5000 micrograms).

Folic acid is a synthetic form of folate, the collective term for all types of vitamins B9 including folic acid and methyl folate.

However, make sure that you talk to a doctor before supplementing with folic acid because:

  • People with MTHFR 677CT mutations don’t process folate or folic acid well
  • Folic acid at high doses may contribute to cancer development
  • Too much folic acid can induce folate deficiency
  • High folic acid can impact blood folic acid but not sperm parameters in men
  • High doses of folic acid can be harmful over a long period


This is a safe, active form of folate and is often referred to as “L-methylfolate”, “L-5-MTHF” or “5-MTHF” on labels. Methylfolate is easily digestible and is the product that the MTHFR enzyme creates. This may be a better alternative to regular folate, as it is already methylated. However, you need to be aware that it is possible to overmethylate as well. This can happen if you have another mutation in the COMT gene, or you supplement with methylfolate, folate, or SAMe over a long period.


This vitamin is essential for the activity of the MTHFR enzyme and clinical trials have shown that it may help reduce pregnancy complications. Pregnant women can take up to 50 micrograms of this vitamin safely. Beware of taking too much methyl B12 if you have the COMT gene.


Riboflavin is typically present in food with folate and other B vitamins and is often deficient in people with certain MTHFR mutations. The recommended dose of this vitamin is 1.4 mg during pregnancy and 1.6 mg during lactation.

Omega-3 Fish Oil

Fish oils with omega-3 EPA/DHA in triglyceride form can be very helpful when you have MTHFR mutations.

Choline and Betaine

These substances may help compensate for lowered MTHFR function and are methyl donors. However, they may also increase homocysteine levels, so talk to your doctor first.


When your body creates creatine, it consumes a lot of methyl groups, so supplementing with this substance may help reduce the need for scarce methylation resources.


Animal studies have shown that zinc deficiency negatively impacts methylation, so supplementing between 5-50mg may help correct this issue.

Pyridoxal-5-Phosphate or Pyridoxine

Also known as vitamin B6, this nutrient helps to decrease homocysteine and is vital for the creation of the cystathionine-beta-synthase enzyme. It’s also safe to take during pregnancy and may help with morning sickness as an added bonus.


An image of the molecular compound of SAMeSAMe, or S-adenosyl-L-methionine, is a compound that naturally occurs in the body and helps with a variety of functions. It can also be taken as a supplement and is used for certain mood disorders like anxiety.However, SAMe is also involved in many methylating reactions and is also formed in the body using folate and B12. So supplementing with SAMe may help boost and free up some of the folates in the body for methylation.

Other Dietary Changes for MTHFR

The link between MTHFR and infertility is strong, so you will probably have to do more to reduce its effects. There are certain dietary changes that will also help reduce the impact of these mutations on your fertility levels such as:

  • Eating a diet that’s rich in organic, leafy greens
  • Eat more foods that are rich in folate such as legumes, meat, and nut butters
  • You can also try folate enriched foods such as cereal, flours, and pasta

How Stress Contributes to Hormone Imbalance

Hormone imbalances and infertility are common problems for people with Adrenal Fatigue Syndrome (AFS). AFS occurs when you’re under chronic stress, leading to the overuse of the NeuroEndoMetabolic (NEM) stress response. The NEM stress response is organized into six circuits of three organs and systems each. It turns on when your adrenal glands produce more cortisol because of stress. This makes changes in your organs and systems. These changes are designed to protect you from damage during a stressful period.

But if you’re chronically stressed as so many people are in the modern world, cortisol levels remain high. The adrenal glands can become fatigued. Adrenal hormones share precursor hormones with other key hormones, such as your reproductive hormones. This causes malfunctions throughout the body’s circuits, including in the Hormonal Circuit, leading to hormone imbalances and other symptoms. This can be strongly associated with infertility and related problems.

How the Hormone Imbalances Affect Infertility

The Hormonal Circuit consists of the thyroid, the adrenal glands, and the ovaries in women or testes in men. The three components of this circuit work to produce and regulate the body’s hormones.

When you’re stressed because of AFS, fertility is a low priority for your body, which is why cortisol causes hormonal changes that make pregnancy less likely. If you already have issues with fertility because of MTHFR gene mutations, this can be devastating for your attempts to carry a child and for your health overall.

Low progesterone levels are one major problem. Your body needs progesterone for a healthy menstrual cycle, pregnancy, and to counter estrogen in the body. People with AFS often experience low progesterone levels due to imbalances in the ovarian-adrenal-thyroid (OAT) axis. Certain MTHFR mutations will only worsen these imbalances.

Many people with AFS also experience estrogen dominance. This can occur because of lower than needed progesterone levels, because progesterone helps to counter and balance estrogen, and because of environmental factors such dietary sources of estrogen.

The Takeaway

If you’re struggling to conceive and carry a child to term, then it may be because of the link between MTHFR and infertility. You need to see your doctor first to get tested and if you have MTHFR mutations. Once you know if MTHFR is an issue for you, you can discuss taking certain supplements, such as methylfolate, creatine, or choline to improve your fertility. It also helps to eat a healthy diet high in leafy greens, nuts, and legumes.

For more guidelines on improving fertility and dealing with MTHFR and other problems associated with adrenal fatigue, you can talk to our team at +1 (626) 571-1234 or click here.

© Copyright 2022 Michael Lam, M.D. All Rights Reserved.

Dr. Lam’s Key Question

The link between MTHFR and infertility happens due to differences in how your body process key vitamins. Genetic mutations in this gene can affect everything from egg production during ovulation to sperm production, so you and your partner should get tested if you’re struggling to create a family.

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