Cold induced rhabdomyolysis in carnitine palmyityl transferase deficiency.
A case of carnitine palmityl transferase deficiency in skeletal muscle is described. The usual symptoms associated with this disease (recurrent muscle cramps or pain and pigmenturia) were observed but sudden exposure to cold precipitate rhabdomyolysis in this patient.
D058186:Acute Kidney Injury / Q000209:etiology*; D000217:Acyltransferases / Q000172:deficiency*; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency* / Q000378:metabolism; D003080:Cold Temperature / Q000009:adverse effects; D005227:Fatty Acids / Q000378:metabolism; D006651:Histocytochemistry; D006801:Humans; D008297:Male; D009132:Muscles / Q000378:metabolism / Q000473:pathology; D009135:Muscular Diseases / Q000209:etiology* / Q000473:pathology
D005227:Fatty Acids; D000217:Acyltransferases; D002334:Carnitine O-Palmitoyltransferase