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23rd July 2015
02:44pm BST

“My sister has had two babies with spina bifida. On the first baby, she had been taking the recommended daily dose of folic acid so the consultant told her that she would need to take 5mg, instead of the usual 400 micrograms per day in the lead up to the conception of her second baby. Yet, in spite of this, she still had another baby with spina bifida. How is that even possible? I thought folic acid was supposed to prevent that from happening.”I explained to my patient that it was possible that her sister (and indeed, her other family members) had a problem with converting the standard form of folic acid into the bio-available form for use within the body. In these cases, high dose folic acid is not very helpful because the body can’t convert the folic acid for proper use within the body. MTHFR- the little known enzyme with a big impact on fertility Some women who have difficulty conceiving or repeated miscarriages may be familiar with this genetic variant. The form of MTHFR that appears to have the biggest impact on the conversion of folic acid into methylfolate is the c677t polymorphism. If a woman tests positive for 1 copy (heterozygous) of this genotype, she would have about a 30% reduction in her capacity to properly metabolise folic acid. If she is unlucky enough to have two copies of the c677t variant, her ability is reduced by up to 70%. What this means is that for a woman with a single copy (or worse again two copies) of c677t, supplementing with standard folic acid will not offer proper protection from neural tube defects. Folic acid v’s Methylfolate The type of folic acid that we get in most supplements is not the same as the dietary folate you get when you eat leafy green vegetables. That said, it is not advisable to depend solely on green leafy vegetables for your folate needs, especially when you are trying to conceive, because there is no way of knowing how much you are getting. If your digestion is poor, you may not be absorbing it properly from your food. The best supplement to take is one that contains L-Methylfolate (aka 5-MTHF or (6S)-5-MTHF) because this is the form of folate that is metabolically active and may be used instantly by the body. Research has also shown that supplementing with this form of folate was more effective at increasing red blood cell concentrations of this vital nutrient. Even better again would be to take a supplement that also contains the bio-available form of B12 (look for methylcobalamin on the supplement label) because B12 works closely with Folate within the body. If you suspect that genetic issues may have a part to play in your own fertility issues then be sure to mention it to your attending consultant. It could make all the difference to your chances of maintaining a healthy pregnancy.
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