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Partial deficiency of cardtine palmityltransferase

Physiologic and biochemical consequences

Departments of Neurology and Medicine and the Cardiovascular Research Institute, University of California School of Medicine, San Francisco, CA.

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.

Address correspondence and reprint requests to Dr. Layzer, 794-M, University of California, San Francisco, CA 94143.

This research was supported in part by a grant from the Muscular Dystrophy Association (R.B.L.) and by US. Public Health Service Grant No. HL-06285 (R.J.H.).

Presented in part at the twenty-ninth annual meeting of the American Academy of Neurology, Atlanta, 1977, and at the Fourth International Congress on Neuromuscular Disease, Montreal, Canada, September 1978.

Accepted for publication September 5, 1979.

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