Carnitine palmitoyl transferase 1A deficiency

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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.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version February 2024

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Carnitine palmitoyl transferase 1A deficiency?

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