Carnitine palmitoyl transferase 1A deficiency
Carnitine palmitoyl transferase 1A deficiency
Definition
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.
Also known as carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase IA deficiency, Carnitine Palmitoyltransferase 1A Deficiency, carnitine palmitoyltransferase I deficiency, cpt deficiency, hepatic, type IA, CPT1A deficiency, CPT1A disorder of carnitine cycle and carnitine transport, disorder of carnitine cycle and carnitine transport caused by mutation in CPT1A, hepatic carnitine palmitoyl transferase 1 deficiency, hepatic carnitine palmitoyl transferase I deficiency, L-CPT1 deficiency, L-CPTI deficiency — per MONDO