3-Hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency.
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.
Sutton
V R
VR
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA. vsutton@bcm.tmc.edu
O'Brien
W E
WE
Clark
G D
GD
Kim
J
J
Wanders
R J A
RJ
D015094:3-Hydroxyacyl CoA Dehydrogenases; D000143:Acids / Q000652:urine; D000429:Alcohol Oxidoreductases / Q000172:deficiency / Q000235:genetics*; D019575:Blindness, Cortical / Q000235:genetics / Q000473:pathology; D002658:Developmental Disabilities / Q000235:genetics / Q000473:pathology; D018753:Diet, Protein-Restricted; D004831:Epilepsies, Myoclonic / Q000235:genetics / Q000473:pathology; D006801:Humans; D007223:Infant; D007532:Isoleucine / Q000378:metabolism; D008297:Male; D008661:Metabolism, Inborn Errors / Q000178:diet therapy / Q000235:genetics*
D000143:Acids; D007532:Isoleucine; D000429:Alcohol Oxidoreductases; D015094:3-Hydroxyacyl CoA Dehydrogenases; C419903:2-methyl-3-hydroxybutyryl-coenzyme A dehydrogenase