/carnitine palmitoyl transferase 1A deficiency

carnitine palmitoyl transferase 1A deficiency

Rare Disease

MONDO:0009705

Also Known As

CPT I deficiencyCPT1A deficiencyCPT1A disorder of carnitine cycle and carnitine transportCarnitine Palmitoyltransferase 1A DeficiencyCarnitine palmitoyl transferase IA deficiencyL-CPT1 deficiencyL-CPTI deficiencycarnitine palmitoyl transferase 1A deficiencycarnitine palmitoyl transferase IA deficiencycarnitine palmitoyltransferase I deficiencycpt deficiency, hepatic, type IAdisorder of carnitine cycle and carnitine transport caused by mutation in CPT1Ahepatic CPT deficiency type Ihepatic carnitine palmitoyl transferase 1 deficiencyhepatic carnitine palmitoyl transferase I deficiencyCPT 1 deficiencyCPT deficiency, hepatic, type 1Carnitine Palmitoyltransferase 1 deficiencyCarnitine Palmitoyltransferase 1A deficiencyCarnitine palmitoyl transferase 1 deficiencyCarnitine palmitoyltransferase 1A deficiencyL-CPT 1 deficiencyhepatic CPT1hepatic carnitine palmitoyltransferase 1 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.