Severe rhabdomyolysis in homozygote carnitine palmitoyltransferase II deficiency
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Date
2020-09-11
Journal Title
Journal ISSN
Volume Title
Publisher
IfADo - Leibniz Research Centre for Working Environment and Human Factors, Dortmund
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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Table of contents
Keywords
Carnitine palmitoyltransferase II deficiency, Myalgia, Rhabdomyolysis, Urosepsis
Citation
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