Methylenetetrahydrofolate reductase, or more easily referred to as MTHFR, is a necessary gene in the human body. It plays a vital role in producing an enzyme known as methylenetetrahydrofolate reductase – used for processing amino acids and chemical reactions involving forms of the vitamin folate. And although all of us are carrying this gene, few of us are aware of the possibility that we could have a MTHFR mutation. For women of childbearing age, it’s not only important to know about this gene but to know that a deficiency in it can lead to miscarriage or complications in pregnancy.

What is MTHFR?

Having a MTHFR gene mutation can result in hyperhomocytenemia, which is an elevated level of an enzyme called homocysteine. More simply, this means the body cannot efficiently absorb folate, also known as folic acid and B vitamins. According to Dr. Peyman Saadat, MD, medical director of the Reproductive Fertility Centers in the Los Angeles area, folic acid is a key ingredient in making DNA, which is critical in the growth of all humans, from conception. “It helps the baby to be able to grow and develop from a fetus into a full-term baby,” says Saadat.

Therefore, a pregnant woman missing this enzyme is at risk for high blood pressure – known as pre-eclampsia – and her child is at risk for chromosomal abnormalities such as neural tube defects (NTD’s). Commonly known NTD birth defects include such spina bifida and anencephaly. MTHFR deficiencies have also been linked to Downs Syndrome.

In addition, MTHFR can be associated with recurrent pregnancy loss. About 21 percent of women with high levels of homocysteine experience recurrent pregnancy loss, according to a study by John C Petrozza, MD, instructor, Department of Obstetrics and Gynecology, Harvard Medical School, and Inna Berin, MD, fellow, Department of Reproductive Endocrinology and Infertility, Massachusetts General Hospital.

The good news is that the genetic defect can be detected with a simple blood test. So if you have experienced multiple miscarriages, you might want to check with your Ob/Gyn or fertility specialist.

“Folic acid and metabolizers are important in other aspects of life too,” says Saadat. “When severely defective, someone can get what they call hyper-homosistine that builds up in the system and that’s associated with cardiovascular disease such as stroke and heart attack.”

Bypassing MHTFR

While you can’t get rid of the genetic defect, you can bypass the complications through several avenues.

First off, women who are thinking of becoming pregnant should begin taking folic acid supplements. The American College of Obstetricians and Gynecologists recommends 400 mcg of folic acid for those thinking of conceiving, and then at least 600 mcg per day during pregnancy – though most prenatal vitamins have up to 1,000 mcg. Also, consider eating foods with higher doses of folic acid, such as eggs, beets, asparagus, mushrooms, dark leafy vegetables, – think spinach, kale, cabbage, endive and broccoli – oranges or orange juice, and legumes such as lentils, green beans, peas and dried beans. Also, read product labels because many pastas, breads and cereals are now enriched with folic acid. 

Missing the vital enzyme means there is a deficiency in three major vitamins that contribute to the DNA process: folic acid, B12 and B6. Some specialty pharmacies carry a medication known as Folgard, which contains all three of these vitamins. Or it is possible to substitute this one medication with three separate tablets of all three of these vitamins, which are all readily available at a local pharmacy. Dr. Saadat says there is no harm from taking any of these vitamins in the right dosage, minus the usual side effects that can come with any medication such as nausea and upset stomach.

What about L-5 MTHF?

Getting what your body needs for essential cell repair and division can also be obtained through a more natural avenue known as L-5 MTHF. L-5 MTHF is a metabolically active form of folate found in nature – it requires no additional metabolic steps to be utilized in the body.

“Supplementing your daily diet with L-5 MTHF helps support many metabolic processes, including hormone metabolism, DNA synthesis and repair, homocysteine metabolism, and nervous system functions,” says Bryan Abel, herbalist, acupuncturist, co-owner of Thumos Health Centers in the Los Angeles area, and founder of Longevity Herbs – an online retailer of herbal products.

Many of the essential products sold by E-commerce site Longevity Herbs contain L-methylfolate. For example, Bio-Available Folate Complete features L-5 MTHF, which contains 800 mcg  of per L-5 MTHF capsule. Abel recommends this product for those looking to conceive, pregnant, the elderly and the population in general. Some studies show that 10 percent of the U.S. population is deficient in necessary folate levels. In addition, individuals at risk for heart disease such as strokes may greatly benefit from taking L-5 MTHF.

Although men do not carry a child, this population should not be overlooked. There is increasing evidence that suggests that dietary factors can affect sperm health. Professor Brenda Eskenazi, an expert in maternal and child health and epidemiology at the University of California, Berkley, specifically examined how micronutrients affect sperm quality and found that men looking to father a child should consider taking folate to prevent chromosomal abnormalities that can lead to failure to conceive and complications such as Down’s Syndrome.

For more information on how to purchase L-5 MTHF and other herbal products, go to