Neural-Tube Defects and Derangement of Homocysteine Metabolism

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Abstract
Studies of the preventive effect of periconceptional multivitamin supplementation on the occurrence of neural-tube defects are conflicting.1 2 3 4 In 1965 Hibbard and Smithells suggested a correlation between maternal folate levels during embryogenesis and the occurrence of fetal malformations.5 Classic homocystinuria is an autosomal recessive inherited disorder of the metabolism of the essential amino acid methionine that is due to a deficiency of the pyridoxine-dependent enzyme cystathionine β-synthase. Pyridoxine, vitamin B12 (cyanocobalamin), and folate are believed to influence homocysteine metabolism.6 7 8 The goal of our study was to investigate the levels of relevant vitamins and homocysteine during methionine loading in women who had given birth to an infant with spina bifida cystica or anencephaly — i.e., a neural-tube defect.