Carnitine palmitoyl transferase 1A deficiency
Synonyms: CPT1A deficiency | Carnitine palmitoyl transferase IA deficiency | Hepatic carnitine palmitoyl transferase 1 deficiency | Hepatic carnitine palmitoyl transferase I deficiency | L-CPT1 deficiency | L-CPTI 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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version February 2024
Newly diagnosed with
Carnitine palmitoyl transferase 1A deficiency?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.