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Betaine in the treatment of homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency

✍ Scribed by U. Wendel; H. J. Bremer

Publisher
Springer
Year
1984
Tongue
English
Weight
496 KB
Volume
142
Category
Article
ISSN
0340-6997

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✦ Synopsis

In a 3-year-old mentally retarded girl with homocystinuria due to 5,10methylenetetrahydrofolate reductase deficiency among different therapeutic approaches only treatment with betaine (15-20g/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.

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