Question

Jean is a 34 year-old woman who is pregnant for the first time. She has a sister who had spina bifida and an older brother who had a stroke when he was 14. Jean has tested positive for presence of a genetic defect known as 677C>T in the methylene-tetrahydrofolate reductase (MTHFR). She is worried about using the traditional prenatal vitamin-mineral supplement because she has been cautioned that she is unable to metabolize folic acid from diet and supplements. She is asking for your advice for a successful pregnancy.
Nutrition Diagnostic Statement
Altered nutrient (folic acid) metabolism related to a genetic alteration as evidenced by positive results for 677 C>T in the MTHFR gene and having a family history of spina bifida and stroke. Nutrition Care

What advice would you give Jean about any additional dietary and lifestyle changes to consider?

Answer 1

The folic acid from diet or supplement should be converted to L- methylfolate by a series of reaction in our system.

DHF - Dihydroxy folate
THF - trihydroxy folate
DHFR - Dihydroxy folate reductase
MTHFR - Methylhydroxy folate reductase
Those who have defect in MTHFR gene cannot process this step since they do not sunthesize ths MTHFR enzyme in the last step. hence the active form MTHF is not synthesised. This is the form which will be transported to cells for further metabolo reactions. Thus folate will be deficient for those who are mutant of MTHFR gene. This is the case of Jean.
But the dietary folate in many green vegetables are already available in the active form MTHF.
Hence it would be advised to Jean to take vegetables like lettuce, sprouted legumes (mung bean, chick peas), broccoli, asparagus, cabbage, citrus fruits (orange), berries (straw berry, raspberry).
If these diets still show her deficient then direct supplement of methylfolate (0.5 mg) should be advised. Folate will not do any good to her.