title: Novel mutations in myopathic form of carnitine palmitoyltransferase II deficiency in a Chinese patient.
abstract: BACKGROUND
  Carnitine palmitoyltransferase II (CPT II) deficiency is one of the most common disorders of oxidative fatty acid metabolism. In this disorder, long-chain acylcarnitines cannot be converted to acyl CoA and there is impairment of β-oxidation of fatty acids.
  
  
  RESULTS
  In the 3 distinct clinical subtypes of CPT II deficiency, adult onset myopathic form shows mild clinical manifestations, characterized by recurrent rhabdomyolysis after intense physical stress. In this study, we report a case with adult myopathic form of CPT II deficiency presenting recurrent exercise-induced myoglobinuria.
  
  
  CONCLUSIONS
  The acylcarnitine profile showed characteristic CPTII deficiency profile and sequencing of the CPT2 gene showed 2 novel missense mutations p. H369Q and p G497S.
authors.affiliation: Department of Pathology, The University of Hong Kong, Hong Kong, China; Department of Laboratory Medicine, School of Medicine, Kyung Hee University, Seoul, Korea.
authors.forename: Sun Young
authors.initials: SY
authors.lastname: Cho
authors.forename: Tak-Shing
authors.initials: TS
authors.lastname: Siu
authors.forename: Oliver
authors.initials: O
authors.lastname: Ma
authors.forename: Sidney
authors.initials: S
authors.lastname: Tam
authors.forename: Ching-wan
authors.initials: CW
authors.lastname: Lam
mesh_terms: D000328:Adult; D044466:Asian People; D001483:Base Sequence; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency* / Q000235:genetics*; D006801:Humans; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D009212:Myoglobinuria / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D005082:Physical Exertion
chemical_list: D002334:Carnitine O-Palmitoyltransferase
keywords: Carnitine palmitoyltransferase II; Myoglobulinuria; Myopathy; Rhabdomyolysis