Treatment with 5-MTHF to support the one-carbon cycle can overcome the deleterious impact of a triple SNP mutation in the male partner's MTHFR gene for a couple with a history of repeated miscarriage.

A couple presenting with more than 3 years' history of infertility and three miscarriages was tested for serum homocysteine levels and for the two principal MTHFR SNPs: 677C < T and 1298A < C, as per our general policy for patients with infertility of long duration. The woman was found to be wild type for both MTHFR SNPs with a serum homocysteine 10.5 µM, slightly higher than our accepted normal value of 8.

Can some metabolic one-carbon cycle linked diseases be prevented? The impact of treating hypo-fertile couples carrying MTHFR SNPs with folic acid and 5-MTHF on outcomes in the offspring: a case retrospective series.

Purpose: In our practice, testing hypo-fertile patients for circulating homocysteine (Hcy) and the two principal MTHFR SNPs (677C > T and 1298A > C) has been routine for the past 7 years. Couples carrying a genetic background known to be associated with the disease were proposed treatment regimens consisting of 5-methyl tetrahydrofolate (5-MTHF) together with nutritional support of the one-carbon cycle (1-CC). Some patients preferred to continue with folic acid (FA) as prescribed by their referring gynecologist/obstetrician: this gave us the opportunity to compare outcomes between the two groups of patients.