Severe rhabdomyolysis in homozygote carnitine palmitoyltransferase II deficiency

Authors

  • Wolfgang J. Schnedl Practice for General Internal Medicine, Dr.-Theodor-Körner-Str. 19b, 8600 Bruck/Mur, Austria, Phone: +43-3612-55833, Fax: +43-3612-55833-22, E-mail: w.schnedl@dr-schnedl.at http://orcid.org/0000-0002-5212-5230
  • Michael Schenk Das Kinderwunsch Institut Schenk GmbH, Am Sendergrund 11, 8143 Dobl, Austria
  • Dietmar Enko Clinical Institute of Medical and Chemical Laboratory Diagnosis, Medical University of Graz, Auenbruggerplatz 30, 8036 Graz, Austria
  • Harald Mangge Clinical Institute of Medical and Chemical Laboratory Diagnosis, Medical University of Graz, Auenbruggerplatz 30, 8036 Graz, Austria

DOI:

https://doi.org/10.17179/excli2020-2866

Keywords:

carnitine palmitoyltransferase II deficiency, myalgia, rhabdomyolysis, urosepsis

Abstract

Carnitine palmitoyltransferase II (CPT II) deficiency represents an inherited defect in mitochondrial long-chain fatty acid oxidation. Rhabdomyolysis with necrosis of muscle is caused by the destruction of skeletal muscle and leads to systemic, multiorgan complications due to the release of intracellular muscle components. Severe rhabdomyolysis may be triggered by combination of a genetic predisposition, including CPT II deficiency, with additionally acting causes. Generally, patients with CPT II deficiency are rarely clinical recognized and reported. We describe a patient presenting severe rhabdomyolysis due to urosepsis, who, in genetic testing, demonstrated the homozygous CPT II deficiency (c.338C>T, p.Ser113Leu) mutation. The diagnosis of CPT II deficiency helped this patient to put the symptoms into context, and this reduced myopathy and the risk of recurring rhabdomyolysis. We report on this patient to increase awareness of diagnostic and medical management in CPT II deficiency.

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Published

2020-09-11

How to Cite

Schnedl, W. J., Schenk, M., Enko, D., & Mangge, H. (2020). Severe rhabdomyolysis in homozygote carnitine palmitoyltransferase II deficiency. EXCLI Journal, 19, 1309–1313. https://doi.org/10.17179/excli2020-2866

Issue

Vol. 19 (2020)

Section

Case reports

License

Copyright (c) 2020 Wolfgang J. Schnedl, Michael Schenk, Dietmar Enko, Harald Mangge

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