Betaine for treatment of homocystinuria caused by methylenetetrahydrofolate reductase deficiency.
- 1 July 1989
- journal article
- case report
- Published by BMJ in Archives of Disease in Childhood
- Vol. 64 (7) , 1061-1064
- https://doi.org/10.1136/adc.64.7.1061
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.Keywords
This publication has 3 references indexed in Scilit:
- Moderate homocysteinemia--a possible risk factor for arteriosclerotic cerebrovascular disease.Stroke, 1984
- Betaine in the treatment of homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiencyEuropean Journal of Pediatrics, 1984
- Homocystinuria associated with decreased methylenetetrahydrofolate reductase activityBiochemical and Biophysical Research Communications, 1972