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

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...

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Bibliographic Details
Published in:European journal of pediatrics 1984-06, Vol.142 (2), p.147-150
Main Authors: WENDEL, U, BREMER, H. J
Format: Article
Language:English
Subjects:
5,10-Methylenetetrahydrofolate Reductase (FADH2)
Alcohol Oxidoreductases - deficiency
Betaine - therapeutic use
Biological and medical sciences
Child, Preschool
Female
Homocystinuria - drug therapy
Homocystinuria - etiology
Humans
Medical sciences
Metabolic diseases
Methylenetetrahydrofolate Reductase (NADPH2)
Obesity
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Summary: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.
ISSN:0340-6199
1432-1076
DOI:10.1007/BF00445602