ISSN:
1432-1076
Keywords:
Homocystinuria
;
5,10-methylenetetrahydrofolate reductase deficiency
;
Betaine
;
Homocysteine remethylation
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
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.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00445602
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