ABSTRACT
Carnitine translocase (carnitine:acylcarnitine carrier) deficiency is a recently discovered disorder of fatty acid oxidation. First described in 1992, the disease accounted for ten of 107 patients in the Saudubray experience with abnormalities in the oxidation of fatty acids. Many patients have developed symptoms and died in infancy. Mitochondrial oxidation of long-chain fatty acids provides an important source of energy for the heart, as well as for skeletal muscle during prolonged aerobic work and for hepatic ketogenesis during long-term fasting. The carnitine shuttle is responsible for transferring long-chain fatty acids across the barrier of the inner mitochondrial membrane to gain access to the enzymes of ß-oxidation. Episodes typically follow prolonged fasting, which is a common response of infants to intercurrent infectious disease.
