Partial deficiency of cardtine palmityltransferase

Abstract

Deficiency of muscle carnitine palmityltransferase (CPT), first described in 1973 by DiMauro and associates,^l,2 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.