Novel mutations in myopathic form of carnitine palmitoyltransferase II deficiency in a Chinese patient

Clin Chim Acta. 2013 Oct 21:425:125-7. doi: 10.1016/j.cca.2013.07.018. Epub 2013 Aug 1.

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.

Conclusion: The acylcarnitine profile showed characteristic CPTII deficiency profile and sequencing of the CPT2 gene showed 2 novel missense mutations p. H369Q and p G497S.

Keywords: Carnitine palmitoyltransferase II; Myoglobulinuria; Myopathy; Rhabdomyolysis.

MeSH terms

  • Adult
  • Asian People
  • Base Sequence
  • Carnitine O-Palmitoyltransferase / deficiency*
  • Carnitine O-Palmitoyltransferase / genetics*
  • Humans
  • Male
  • Metabolism, Inborn Errors / complications
  • Metabolism, Inborn Errors / diagnosis
  • Metabolism, Inborn Errors / genetics*
  • Molecular Sequence Data
  • Mutation, Missense*
  • Myoglobinuria / complications
  • Myoglobinuria / diagnosis
  • Myoglobinuria / genetics*
  • Physical Exertion

Substances

  • Carnitine O-Palmitoyltransferase

Supplementary concepts

  • Carnitine palmitoyl transferase 2 deficiency
  • Myoglobinuria, Acute Recurrent, Autosomal Recessive