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  • Title: Partial deficiency of carnitine palmityltransferase: physiologic and biochemical consequences.
    Author: Layzer RB, Havel RJ, McIlroy MB.
    Journal: Neurology; 1980 Jun; 30(6):627-33. PubMed ID: 7189839.
    Abstract:
    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.
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