Article
Abnormal sodium stimulation of carnitine transport in primary carnitine deficiency.
The Journal of biological chemistry - 7 Jul 2000
Wang Y, Meadows T A, Longo N
Abstract excerpt
Primary carnitine deficiency is an autosomal recessive disorder of fatty acid oxidation characterized by hypoketotic hypoglycemia and skeletal and cardiac myopathy. It is caused by mutations in the sodium-dependent carnitine cotransporter OCTN2. The majority of natural mutations identified in this and other Na(+)/solute symporters introduce premature termination codons or impair insertion of the mutant...
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