Severe rhabdomyolysis in homozygote carnitine palmitoyltransferase II deficiency

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dc.contributor.authorSchnedl, Wolfgang J.
dc.contributor.authorSchenk, Michael
dc.contributor.authorEnko, Dietmar
dc.contributor.authorMangge, Harald
dc.date.accessioned2020-12-17T14:41:56Z
dc.date.available2020-12-17T14:41:56Z
dc.date.issued2020-09-11
dc.description.abstractCarnitine 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.en
dc.identifier.citationSchnedl, 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/excli2020-2866en
dc.identifier.issn1611-2156
dc.identifier.urihttp://hdl.handle.net/2003/39927
dc.identifier.urihttp://dx.doi.org/10.17877/DE290R-21817
dc.language.isoen
dc.publisherIfADo - Leibniz Research Centre for Working Environment and Human Factors, Dortmunden
dc.relation.ispartofseriesEXCLI Journal;Vol. 19 2020
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.subjectCarnitine palmitoyltransferase II deficiencyen
dc.subjectMyalgiaen
dc.subjectRhabdomyolysisen
dc.subjectUrosepsisen
dc.subject.ddc610
dc.titleSevere rhabdomyolysis in homozygote carnitine palmitoyltransferase II deficiencyen
dc.typeText
dc.type.publicationtypearticle
dcterms.accessRightsopen access
eldorado.dnb.zdberstkatid2132560-1
eldorado.identifier.urlhttps://www.excli.de/index.php/excli/article/view/2866
eldorado.secondarypublicationtrue

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