[Rhabdomyolysis in carnitine palmitoyltransferase deficiency].
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.
Stavem
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Medisinsk avdeling Sentralsykehuset i Akershus, Nordbyhagen.
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Bøhmer
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D058186:Acute Kidney Injury / Q000201:enzymology / Q000209:etiology; D000328:Adult; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency*; D006801:Humans; D008297:Male; D009132:Muscles / Q000201:enzymology; D012008:Recurrence; D012131:Respiratory Insufficiency / Q000201:enzymology / Q000209:etiology; D012206:Rhabdomyolysis / Q000150:complications / Q000175:diagnosis / Q000201:enzymology*
D002334:Carnitine O-Palmitoyltransferase
Rabdomyolyse ved mangel på karnitinpalmityltransferase.