Catalog

Carnitine palmitoyltransferase I deficiency

No MMS code

Link to WHO Definition

Carnitine palmitoyltransferase I deficiency – http://id.who.int/icd/entity/500237301

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 characterised by recurrent attacks of fasting-induced hypoketotic hypoglycaemia and risk of liver failure.