title: Betaine in the treatment of homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency.
abstract: 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.
mesh_terms: D045103:5,10-Methylenetetrahydrofolate Reductase (FADH2); D000429:Alcohol Oxidoreductases / Q000172:deficiency*; D001622:Betaine / Q000627:therapeutic use*; D002675:Child, Preschool; D005260:Female; D006712:Homocystinuria / Q000188:drug therapy* / Q000209:etiology; D006801:Humans; D042965:Methylenetetrahydrofolate Reductase (NADPH2)
chemical_list: D001622:Betaine; D000429:Alcohol Oxidoreductases; D045103:5,10-Methylenetetrahydrofolate Reductase (FADH2); D042965:Methylenetetrahydrofolate Reductase (NADPH2)