carnitine palmitoyl transferase 1A 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.
MONDO:0037858
inherited fatty acid metabolism disorder
is_a
MONDO:0700284
carnitine palmitoyl transferase deficiency
is_a
CPT1A deficiency
exact
CPT1A disorder of carnitine cycle and carnitine transport
exact
Carnitine Palmitoyltransferase 1A Deficiency
exact
Carnitine palmitoyl transferase 1 deficiency
related
Carnitine palmitoyl transferase IA deficiency
exact
Carnitine palmitoyltransferase 1A deficiency
related
L-CPT 1 deficiency
related
L-CPT1 deficiency
exact
L-CPTI deficiency
exact
carnitine palmitoyl transferase 1A deficiency
exact
carnitine palmitoyl transferase IA deficiency
exact
carnitine palmitoyltransferase I deficiency
exact
cpt deficiency, hepatic, type IA
exact
disorder of carnitine cycle and carnitine transport caused by mutation in CPT1A
exact
hepatic CPT1
related
hepatic carnitine palmitoyl transferase 1 deficiency
exact
hepatic carnitine palmitoyl transferase I deficiency
exact
hepatic carnitine palmitoyltransferase 1 deficiency
related