Rhabdomyolysis in carnitine palmitoyltransferase deficiency
Stavem, K.; Bjerke, G.; Skullerud, K.; Bøhmer, T.
Tidsskrift for den Norske Laegeforening Tidsskrift for Praktisk Medicin Ny Raekke 114(20): 2398-2399
1994
ISSN/ISBN: 0029-2001 PMID: 7997994 Document Number: 425063
A 45 year old man had had recurrent rhabdomyolytic episodes from the age of 16 following prolonged exercise or infection. During one episode he developed respiratory and renal failure, but recovered completely. Biochemical investigation of muscle biopsy showed deficiency of carnitine palmityl transferase (CPT), an enzyme involved in the beta-oxidation of fat metabolism.
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