Description of the disease * EnglishPolish Pobierz sekcję do PDF 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. Disease data Classification Disease Synonyms CPT1A deficiency Niedobór CPT1A Niedobór L-CPT1 Niedobór L-CPTI Niedobór palmitylotransferazy 1 karnityny wątrobowej Niedobór palmitylotransferazy I karnityny wątrobowej Niedobór palmitylotransferazy IA karnityny Carnitine palmitoyl transferase IA deficiency Hepatic carnitine palmitoyl transferase 1 deficiency Hepatic carnitine palmitoyl transferase I deficiency L-CPT1 deficiency L-CPTI deficiency ORPHA code 156 OMIM code 255120 ICD10 code E71.3 ICD11 code 5C52.00 *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl