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Case Reports
. 1984 Jun;142(2):147-50.
doi: 10.1007/BF00445602.

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

Case Reports

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

U Wendel et al. Eur J Pediatr. 1984 Jun.

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.

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References

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