Partial deficiency of carnitine palmityltransferase: physiologic and biochemical consequences.
Deficiency of muscle carnitine palmityltransferase (CPT), first described in 1973 by DiMauro and associates, is proving to be one of the principal causes of recurrent paroxysmal myoglobinuria. In this disease, oxidation of lipid substrates is impaired, because CPT is necessary for the transport of long-chain fatty acids through the inner mitochondrial membrane. As a result, patients depend excessively on carbohydrate metabolism as a source of energy for muscular work.
D000217:Acyltransferases / Q000172:deficiency*; D000293:Adolescent; D050260:Carbohydrate Metabolism; D002334:Carnitine O-Palmitoyltransferase / Q000145:classification / Q000172:deficiency* / Q000378:metabolism; D005215:Fasting; D005230:Fatty Acids, Nonesterified / Q000378:metabolism; D005347:Fibroblasts / Q000201:enzymology / Q000648:ultrastructure; D006003:Glycogen / Q000378:metabolism; D006801:Humans; D007657:Ketone Bodies / Q000096:biosynthesis; D008099:Liver / Q000378:metabolism; D008297:Male; D008931:Mitochondria, Muscle / Q000201:enzymology / Q000648:ultrastructure; D009132:Muscles / Q000201:enzymology* / Q000648:ultrastructure; D005082:Physical Exertion
D005230:Fatty Acids, Nonesterified; D007657:Ketone Bodies; D006003:Glycogen; D000217:Acyltransferases; D002334:Carnitine O-Palmitoyltransferase