It’s no secret that pregnant women need folate/folic acid in order to deliver healthy babies. The women who do not take folate during pregnancy have a higher risk of delivering a baby with a neural tube defect (NTD). It’s very early in the pregnancy when the neural tube closes, which is why women should consider consuming folate as early as possible.

The reasons why women often don’t get enough folate are multi-faceted, but not eating enough leafy greens can be a cause (which gets complicated by the fact that our food supply can often be short on important nutrients). Getting folic acid from supplements or in fortified foods as well as genetic mutations are two other factors that complicate the body’s need for truly absorbable folate. Folate deficiency may not necessarily be the sole cause of NTD’s, as a vitamin B12 deficiency may also play a role. The recent studies are proving that most people are simply unable to process folic acid in a way that makes absorbable folate for the body to use directly.

When talking about MTHFR, 3 things are referred to: a gene, an enzyme and a number of genetic defects that don’t allow the body to process folic acid the way that it should. MTHFR is short for a gene known as methylenetetrahydrofolate reductase. This gene is responsible for letting the body know how to make an enzyme of the same name. If a mutation is present on the MTHFR gene(s), then the enzyme is simply not able to be formed properly and consequently will not fit into the folate receptor correctly, which then means the body is unable to process or use the folate. A person with this problem is known to have a defective MTHFR gene.

New research is giving us a clearer insight into the MTHFR defects, which have actually been linked to a number of different health issues. Apart from the aforementioned NTD, it has also been linked to Autism and Down’s Syndrome. Getting an early start is a great way to address the potential problems, which means taking folate before conceiving, as this will greatly increase the chances of you having a healthy baby (though it is encouraged to start taking folic acid early in the pregnancy, methylfolate is the preferred form for anyone with MTHFR defects). If you have a child with health issues, having them tested for MTHFR mutations can help reduce and in some cases even reverse the symptoms.

MTHFR mutations can be detected with a simple blood test, and this can easily be done by your family doctor or by a third party vendor providing genetic results. If you talk to your physician and find that he or she is not familiar with the testing protocol, ask if they can refer you to a doctor who does have experience in this area (or find more information online here). There may be a host of different treatment options available to you, so make sure to read up on all of them before making a final decision.

Most of us think that folic acid and folate are the same compound, but that is not correct. Both terms are generally used when talking about the folic acid you find in your food and supplements. But in actuality, folic acid is a synthetic form of folate used in supplements as well as fortified foods like bread and cereals, but folic acid is inactive in the human body (and can even cause more problems than it helps, especially in those that have the MTHFR mutations). In order for the body to use it, folic acid must be converted into the methyl folate enzyme, which is a process reliant on the MTHFR gene. People with the MTHFR mutation will have problems making that conversion, and find their folate receptors actually blocked by malformed folic acid enzymes. L-methyl folate and 5-MHTF are two different terms referring to the same nutrient, which is the active form of folate that your body can directly use (provided your folate receptors are available to grab it – and not being clogged by unmetabolized folic acid).