title: Chronic myopathy with a partial deficiency of the carnitine palmityltransferase enzyme.
abstract: To date, chronic myopathy has not been reported (to our knowledge) to occur in carnitine palmityltransferase (CPT) deficiency, a disorder of muscle lipid metabolism. We describe two patients with CPT deficiency: a mother, who had a partial CPT deficiency associated with fixed proximal weakness but without rhabdomyolysis, and her son, who had a complete CPT deficiency (95% reduction in enzyme activity) and who suffered from classic attacks of exercise-induced rhabdomyolysis but had normal strength on recovery. Careful examination of family members of patients with complete CPT deficiency is suggested in order to identify clinically affected heterozygotes.
authors.affiliation: Department of Medicine, Beth Israel Hospital, Boston, MA.
authors.forename: R I
authors.initials: RI
authors.lastname: Kieval
authors.forename: A
authors.initials: A
authors.lastname: Sotrel
authors.forename: M E
authors.initials: ME
authors.lastname: Weinblatt
mesh_terms: D000217:Acyltransferases / Q000172:deficiency*; D000293:Adolescent; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency*; D002908:Chronic Disease; D004576:Electromyography; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009132:Muscles / Q000473:pathology; D009135:Muscular Diseases / Q000150:complications* / Q000235:genetics / Q000473:pathology
chemical_list: D000217:Acyltransferases; D002334:Carnitine O-Palmitoyltransferase