Betaine for treatment of homocystinuria caused by methylenetetrahydrofolate reductase deficiency
E Holme, B Kjellman, E Ronge, E Holme, B Kjellman, E Ronge
Abstract
A 24 day old girl with homocystinuria and hypomethioninaemia caused by methylenetetrahydrofolate reductase deficiency presented with rapidly progressing encephalopathy and myopathy. An almost complete recovery was achieved by treatment with betaine.
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Source: PubMed