Betaine in the treatment of homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency
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- Wendel, U. & Bremer, H.J. Eur J Pediatr (1984) 142: 147. doi:10.1007/BF00445602
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In a 3-year-old mentally retarded girl with homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency among different therapeutic approaches only treatment with betaine (15–20 g/day) resulted in a satisfactory biochemical response. Betaine improved homocysteine remethylation and thus lowered plasma homocystine to trace amounts and normalized the previously very low plasma methionine concentration. This biochemical response was associated with a clinical improvement although she remained mentally retarded.