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.

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.

• Authors: Sun Young Cho, Tak-Shing Siu, Oliver Ma, Sidney Tam, Ching-wan Lam
• Journal: Clinica chimica acta; international journal of clinical chemistry (Clin Chim Acta) Vol. 425 Pg. 125-7 (Oct 21 2013) ISSN: 1873-3492 [Electronic] Netherlands
• PMID: 23911907 (Publication Type: Journal Article)
• Copyright: © 2013.

Chemical References

• Carnitine O-Palmitoyltransferase

Topics

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