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Up to: Inherited fatty acid metabolism disorder · Carnitine palmitoyl transferase deficiency

Carnitine palmitoyl transferase 1A deficiency

Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure.

1 trial tagged with this condition →

This condition has no sub-types.