MTHFR Deficiency, Pregnancy, and Your Child
You may have heard people talking over the last few years about a genetic disorder called an MTHFR deficiency. What exactly is an MTHFR deficiency, and how can it affect your pregnancy or your ability to conceive?
What is MTHFR?
MTHFR stands for Methylene-TetraHydroFolate Reductase. It is an enzyme that has many roles in the body. In terms of pregnancy, one of the most important things MTHFR does is make folate available for the body to use. Specifically, it adds a small molecule called a methyl group to folic acid (which your body can't use in its raw form) to create methylfolate, which is the form your body (and your baby) needs.
When someone has an MTHFR deficiency, it means that the usual gene on their DNA that is responsible for making the MTHFR enzyme is swapped out for a less functional version. This less functional version can still convert some folic acid into methylfolate, but only 20-60% as well as a normal gene, depending on if you have one copy or two copies of the mutation.
Folic acid is the main type of folate added to fortified foods and used in vitamin supplements, including prenatals. When people with MTHFR deficiencies consume food or take vitamins with folic acid, their reduced ability to convert it into methylfolate can cause folic acid to build up in the system. In addition, the body is not getting the folate that it needs out of that supplement. Because of this, people with MTHFR deficiencies can end up having too much folic acid and too little methylfolate, which can impact many of the body's functions, including DNA repair, energy production, and heart and blood vessel health.
Folic acid is the main type of folate added to fortified foods and used in vitamin supplements, including prenatals. When people with MTHFR deficiencies consume food or take vitamins with folic acid, their reduced ability to convert it into methylfolate can cause folic acid to build up in the system. In addition, the body is not getting the folate that it needs out of that supplement. Because of this, people with MTHFR deficiencies can end up having too much folic acid and too little methylfolate, which can impact many of the body's functions, including DNA repair, energy production, and heart and blood vessel health.
How common is MTHFR deficiency?
There are several types of MTHFR variations. Some of these have very little effect on methylation, while two genes - C677T and A1298C - are responsible for the majority of issues relating to MTHFR deficiency. People with one or both mutated forms of the gene are more likely to experience deficiencies in folate and increases in homocysteine, an amino acid that's associated with increased risk of heart disease.
Can an MTHFR deficiency affect Fertility?
Because a growing baby requires folate to form, having low methylfolate levels in pregnancy has been linked to several issues that may result in miscarriage or failure to implant. In addition, MTHFR deficiency disorders have been associated with higher rates of male infertility.
Could an MTHFR deficiency affect my baby?
Finding out that you have an MTHFR deficiency does NOT mean that your baby will have birth defects! There are several genes that are part of the methylation pathway, and there are some "side routes" that methylation can go through if any of these are blocked. The people most at risk for folate-related issues in pregnancy are people with severe MTHFR deficiencies that are either taking folic acid exclusively or not taking any prenatal at all, eating a diet low in fortified foods, low in high-folate foods, or both.
What About the Folate in My Food?
Luckily, even if you have a MTHFR deficiency, you can still get folate from your food, especially from leafy greens, citrus fruits, and organ meats such as liver. However, how food is prepared has a significant impact on folate levels. In a 2002 study published by the British Journal of Nutrition, 56% of folate was lost in vegetables that were cooked by boiling, while all of the folate was retained when steamed.
What about folic acid supplements?
Because of a reduced ability to form methylfolate, it's generally recommended that individuals with MTHFR deficiencies avoid any supplements that contain folic acid. When getting supplements that contain any form of folate, always look for methylfolate, L-methylfolate, 5-MTHF, or L-5-MTHF and avoid anything that contains “folic acid.”
How Can I Find Out My MTHFR Status?
MTHFR status can be determined under the supervision of a qualified health care practitioner. There are several labs that can test for MTHFR deficiency. The test can be done on a blood sample, on saliva, or via an oral swab.
One of the most accessible and least expensive ways to find out about your MTHFR status is through 23andMe, which offers a full downloadable list of genetic variations, including the genes that code for MTHFR. A free site called Genetic Genie can further isolate Methylation and Detoxification pathways by linking directly to your 23andMe account. These results may be difficult to interpret, but with a little reading or the guidance of a health care practitioner you can find out a great deal about your body's ability to methylate.
One of the most accessible and least expensive ways to find out about your MTHFR status is through 23andMe, which offers a full downloadable list of genetic variations, including the genes that code for MTHFR. A free site called Genetic Genie can further isolate Methylation and Detoxification pathways by linking directly to your 23andMe account. These results may be difficult to interpret, but with a little reading or the guidance of a health care practitioner you can find out a great deal about your body's ability to methylate.
Once you know your MTHFR status you can work with your health care provider to make sure that you have all of the essential nutrients you need to increase fertility and protect the health of your child.
