title: Mitochondrial respiratory chain complex I deficiency with clinical and biochemical features of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.
abstract: The mitochondrial respiratory chain and the fatty acid oxidation cycle are theoretically interdependent on each other for normal function. We describe a patient with complex I deficiency who had clinical and biochemical features of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency including liver failure, cardiomyopathy, and consistent urine organic acid pattern. Patients with features of either a respiratory chain or fatty acid oxidation disorder should have the defect characterized biochemically because of the implications with respect to potential therapy and genetic counseling.
authors.affiliation: Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, CA 94143-0748, USA.
authors.forename: G M
authors.initials: GM
authors.lastname: Enns
authors.forename: M J
authors.initials: MJ
authors.lastname: Bennett
authors.forename: C L
authors.initials: CL
authors.lastname: Hoppel
authors.forename: S I
authors.initials: SI
authors.lastname: Goodman
authors.forename: K
authors.initials: K
authors.lastname: Weisiger
authors.forename: C
authors.initials: C
authors.lastname: Ohnstad
authors.forename: M
authors.initials: M
authors.lastname: Golabi
authors.forename: S
authors.initials: S
authors.lastname: Packman
mesh_terms: D015094:3-Hydroxyacyl CoA Dehydrogenases / Q000172:deficiency*; D004579:Electron Transport; D005227:Fatty Acids / Q000378:metabolism; D006801:Humans; D007223:Infant; D008297:Male; D009247:NADH, NADPH Oxidoreductases / Q000172:deficiency*
chemical_list: D005227:Fatty Acids; D015094:3-Hydroxyacyl CoA Dehydrogenases; D009247:NADH, NADPH Oxidoreductases