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Carnitine palmitoyltransferase II deficiency, sometimes shortened to CPT-II or CPT2, is an autosomal recessively inherited genetic metabolic disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria for utilization as an energy source. The disorder presents in one of three ...
CPT2 together with carnitine palmitoyltransferase I oxidizes long-chain fatty acids in the mitochondria. Defects in this gene are associated with mitochondrial long-chain fatty-acid (LCFA) oxidation disorders and carnitine palmitoyltransferase II deficiency. [6] Acyl-CoA from cytosol to the mitochondrial matrix
Carnitine palmitoyltransferase II, an important metabolic enzyme. Carnitine palmitoyltransferase II deficiency, a condition that prevents the body from converting certain fats into energy; Killarney Airport, CPT2 ICAO airport code, located in Killarney, Ontario, Canada
Numerous genetic disorders are caused by errors in fatty acid metabolism.These disorders may be described as fatty oxidation disorders or as a lipid storage disorders, and are any one of several inborn errors of metabolism that result from enzyme defects affecting the ability of the body to oxidize fatty acids in order to produce energy within muscles, liver, and other cell types.
Carnitine palmitoyltransferase I deficiency; Carnitine palmitoyltransferase II deficiency; Medium-chain acyl-coenzyme A dehydrogenase deficiency; Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency; Very long-chain acyl-coenzyme A dehydrogenase deficiency
Carnitine-acylcarnitine translocase deficiency has an autosomal recessive pattern of inheritance. Carnitine-acylcarnitine translocase deficiency is a rare, autosomal recessive metabolic disorder that prevents the body from converting long-chain fatty acids into energy, particularly during periods without food. [ 1 ]
Carnitine palmitoyltransferase I deficiency has an autosomal recessive pattern of inheritance. Mutations in the CPT1A gene cause carnitine palmitoyltransferase I deficiency by producing a defective version of an enzyme called carnitine palmitoyltransferase I. Without this enzyme, long-chain fatty acids from food and fats stored in the body ...
Carbamoyl phosphate synthetase I deficiency; Carey Fineman Ziter syndrome; Carnitine palmitoyltransferase I deficiency; Carnitine palmitoyltransferase II deficiency; Carnitine-acylcarnitine translocase deficiency; Carnosinemia; Carpenter syndrome; Cartilage–hair hypoplasia; Caspase-8 deficiency; CD55 deficiency; Cenani–Lenz syndactylism ...