Betaine in the treatment of homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency
European Journal of PediatricsPublished 1 June 1984
U. Wendel, H. J. Bremer
Citations99
SJR quartileQ1
SJR score0.93
SNIP1.20
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TL;DR
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 resulted in a satisfactory biochemical response.
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.
Keywords
MedicineBiochemistry, Genetics and Molecular Biology
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