Betaine for treatment of homocystinuria caused by methylenetetrahydrofolate reductase deficiency.

Authors
Category Primary study
JournalArchives of disease in childhood
Year 1989
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.
Epistemonikos ID: b6831cc62cdefeb7111b6b061c8166a448885c4e
First added on: Mar 14, 2014