Carnitine palmitoyl transferase 1A deficiency
MONDO:0009705Carnitine 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.
Also known as: CPT1A deficiency, CPT1A disorder of carnitine cycle and carnitine transport, Carnitine Palmitoyltransferase 1A Deficiency, Carnitine palmitoyl transferase IA deficiency, L-CPT1 deficiency, L-CPTI deficiency, carnitine palmitoyl transferase 1A deficiency, carnitine palmitoyl transferase IA deficiency
1 clinical trial for this condition and its sub-types.
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