title: Short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency in muscle: a new cause for recurrent myoglobinuria and encephalopathy.
abstract: We report on a 16-year-old girl with short-chain L-3-hydroxyacyl-coenzyme A (CoA) dehydrogenase deficiency resulting in juvenile-onset recurrent myoglobinuria, hypoketotic hypoglycemic encephalopathy, and hypertrophic/dilatative cardiomyopathy. Urinary organic acids showed traces of 3-hydroxy-dodecanedioic acids and small amounts of suberic, sebacic, and adipic acids. There was a marked decrease in L-3-hydroxyacyl-CoA dehydrogenase activity in muscle with acetoacetyl-CoA as substrate (2.48 mumol/min/gm; normal = 6.90 +/- 1.80 mumol/min/gm of tissue; n = 11), contrasting with normal L-3-hydroxyacyl-CoA dehydrogenase activity with 3-ketooctanoyl-CoA and 3-ketopalmitoyl-CoA as substrates. Short-chain L-3-hydroxyacyl-CoA dehydrogenase activity was normal in fibroblasts, suggesting a tissue-specific defect.
authors.affiliation: Columbia Presbyterian Medical Center, New York, NY.
authors.forename: I
authors.initials: I
authors.lastname: Tein
authors.forename: D C
authors.initials: DC
authors.lastname: De Vivo
authors.forename: D E
authors.initials: DE
authors.lastname: Hale
authors.forename: J T
authors.initials: JT
authors.lastname: Clarke
authors.forename: H
authors.initials: H
authors.lastname: Zinman
authors.forename: R
authors.initials: R
authors.lastname: Laxer
authors.forename: A
authors.initials: A
authors.lastname: Shore
authors.forename: S
authors.initials: S
authors.lastname: DiMauro
mesh_terms: D015094:3-Hydroxyacyl CoA Dehydrogenases / Q000172:deficiency*; D000293:Adolescent; D001927:Brain Diseases / Q000209:etiology*; D006332:Cardiomegaly / Q000209:etiology; D005260:Female; D006801:Humans; D009132:Muscles / Q000201:enzymology*; D009212:Myoglobinuria / Q000209:etiology*; D012008:Recurrence
chemical_list: D015094:3-Hydroxyacyl CoA Dehydrogenases