title: Mitochondrial trifunctional protein deficiency associated with recurrent myoglobinuria in adolescence.
abstract: A 23-year-old man with recurrent myoglobinuria had low muscle-free carnitine levels and deficient fasting ketogenesis. Urinary organic acid analysis showed large amounts of C6-C14 3-hydroxydicarboxylic acids. Mitochondrial trifunctional protein (TP), harboring long-chain enoyl-coenzyme A (CoA) hydratase, long-chain 3-hydroxyacyl-CoA dehydrogenase, and long-chain 3-ketoacyl-CoA thiolase showed markedly decreased activity in fibroblasts. On immunoblot analysis, the TP content of his fibroblasts was less than 2% that of the control cells. TP deficiency can be a life-threatening disorder with early infantile onset, but it can also present in adolescence with recurrent myoglobinuria.
authors.affiliation: First Department of Medicine, Hamamatsu University School of Medicine, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Miyajima
authors.forename: K E
authors.initials: KE
authors.lastname: Orii
authors.forename: Y
authors.initials: Y
authors.lastname: Shindo
authors.forename: T
authors.initials: T
authors.lastname: Hashimoto
authors.forename: T
authors.initials: T
authors.lastname: Shinka
authors.forename: T
authors.initials: T
authors.lastname: Kuhara
authors.forename: I
authors.initials: I
authors.lastname: Matsumoto
authors.forename: H
authors.initials: H
authors.lastname: Shimizu
authors.forename: E
authors.initials: E
authors.lastname: Kaneko
mesh_terms: D015094:3-Hydroxyacyl CoA Dehydrogenases / Q000172:deficiency*; D000293:Adolescent; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D008297:Male; D008928:Mitochondria / Q000201:enzymology*; D009097:Multienzyme Complexes / Q000172:deficiency*; D018482:Muscle, Skeletal / Q000473:pathology; D009212:Myoglobinuria / Q000175:diagnosis* / Q000201:enzymology / Q000473:pathology; D012206:Rhabdomyolysis / Q000473:pathology
chemical_list: D009097:Multienzyme Complexes; D015094:3-Hydroxyacyl CoA Dehydrogenases