Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Schnedl, WJ; Schenk, M; Enko, D; Mangge, H.
Severe rhabdomyolysis in homozygote carnitine palmitoyltransferase II deficiency.
EXCLI J. 2020; 19(12):1309-1313
Doi: 10.17179/excli2020-2866
(- Case Report)
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- Führende Autor*innen der Med Uni Graz
- Schnedl Wolfgang
- Co-Autor*innen der Med Uni Graz
- Enko Dietmar
- Mangge Harald
- Schenk Michael
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- 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. Copyright © 2020 Schnedl et al.
- Find related publications in this database (Keywords)
- Carnitine palmitoyltransferase II deficiency
- myalgia
- rhabdomyolysis
- urosepsis