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.
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
No additional description.
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