Article
Molecular characterization of L-CPT I deficiency in six patients: insights into function of the native enzyme.
Journal of lipid research - 1 Jul 2001
Brown N F, Mullur R S, Subramanian I, Esser V, Bennett M J, Saudubray J M, Feigenbaum A S, Kobari J A, Macleod P M, McGarry J D, Cohen J C
Abstract excerpt
Carnitine palmitoyltransferase I (CPT I) catalyzes the formation of acylcarnitine, the first step in the oxidation of long-chain fatty acids in mitochondria. The enzyme exists as liver (L-CPT I) and muscle (M-CPT I) isoforms that are encoded by separate genes. Genetic deficiency of L-CPT I, which has been reported in 16 patients from 13 families, is characterized by episodes of hypoketotic hypoglycemia beginning...
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