Betaine for treatment of homocystinuria caused by methylenetetrahydrofolate reductase deficiency.
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.
Holme
E
E
Department of Clinical Chemistry, Gothenburg University, Sweden.
Kjellman
B
B
Ronge
E
E
D045103:5,10-Methylenetetrahydrofolate Reductase (FADH2); D001622:Betaine / Q000627:therapeutic use*; D005260:Female; D006711:Homocystine / Q000097:blood; D006712:Homocystinuria / Q000097:blood / Q000188:drug therapy* / Q000209:etiology; D006801:Humans; D007231:Infant, Newborn; D008715:Methionine / Q000097:blood; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D010088:Oxidoreductases / Q000172:deficiency*
D001622:Betaine; D006711:Homocystine; D008715:Methionine; D010088:Oxidoreductases; D045103:5,10-Methylenetetrahydrofolate Reductase (FADH2); D042965:Methylenetetrahydrofolate Reductase (NADPH2)