title: Severe rhabdomyolysis with hypoglycemia in an adult patient with carnitine palmitoyltransferase II deficiency.
abstract: Carnitine palmitoyltransferase II (CPT2) deficiency is an inherited disorder associated with rhabdomyolysis. The adult form of CPT2 deficiency is usually "benign", characterized by episodes of rhabdomyolysis without extramuscular manifestations and with a good outcome, while the infantile type characteristically presents with severe metabolic symptoms such as hypoketotic hypoglycemia. We present here a case of severe rhabdomyolysis with acute renal failure and hypoglycemia in an adult patient with CPT2 deficiency.
authors.affiliation: Academic Department of Internal Medicine, Hippokration General Hospital, Athens, Greece. kostam@ath.forthnet
authors.forename: M
authors.initials: M
authors.lastname: Deutsch
authors.forename: D
authors.initials: D
authors.lastname: Vassilopoulos
authors.forename: N
authors.initials: N
authors.lastname: Sevastos
authors.forename: A
authors.initials: A
authors.lastname: Papadimitriou
authors.forename: K
authors.initials: K
authors.lastname: Vasiliou
authors.forename: A J
authors.initials: AJ
authors.lastname: Archimandritis
mesh_terms: D000328:Adult; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency* / Q000235:genetics*; D006801:Humans; D007003:Hypoglycemia / Q000209:etiology*; D008297:Male; D008928:Mitochondria / Q000201:enzymology; D012206:Rhabdomyolysis / Q000209:etiology*; D012720:Severity of Illness Index
chemical_list: D002334:Carnitine O-Palmitoyltransferase