" /> Carnitine palmitoyltransferase I deficiency - CISMeF





Preferred Label : Carnitine palmitoyltransferase I deficiency;

ICD-11 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.;

ICD-11 synonym : CPT1 - [Carnitine palmitoyltransferase I] deficiency; CPT1 deficiency; Liver form of carnitine palmitoyltransferase deficiency;

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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.

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19/08/2025


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