3-Hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency
V R Sutton1, W E O'Brien, G D Clark
1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA. vsutton@bcm.tmc.edu
Abstract:
A boy now 8 years old presented at 21 months of age with developmental arrest, followed by regression, cortical blindness and myoclonic seizures. Urine organic acid analysis revealed 3-hydroxy-2-methylbutyric acid and tiglyglycine; 3-ketothiolase enzyme activity was normal and he was subsequently found to have 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency.
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