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Partial deficiency of carnitine palmityltransferase: physiologic and biochemical consequences

Layzer, R.B.; Havel, R.J.; McIlroy, M.B.

Neurology 30(6): 627-633

1980

ISSN/ISBN: 0028-3878
PMID: 7189839
Document Number: 161727
Deficiency of muscle carnitine palmityltransferase (CPT) 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. Patients, therefore, depend excessively on carbohydrate metabolism as a source of energy for muscular work.

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