Chronic myopathy with a partial deficiency of the carnitine palmityltransferase enzyme.
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.
Kieval
R I
RI
Department of Medicine, Beth Israel Hospital, Boston, MA.
Sotrel
A
A
Weinblatt
M E
ME
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
D000217:Acyltransferases; D002334:Carnitine O-Palmitoyltransferase