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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 Palmitoyl Transferase I & II ( CPT I deficiency & CPT II deficiency) 2,4 Dienoyl-CoA Reductase Deficiency; Electron Transfer Flavoprotein (ETF) Dehydrogenase Deficiency (GA-II/MADD) 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency (HMG deficiency) Very long-chain acyl-coenzyme A dehydrogenase deficiency (VLCAD deficiency)
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 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
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 ...
n November 1954, 29-year-old Sammy Davis Jr. was driving to Hollywood when a car crash left his eye mangled beyond repair. Doubting his potential as a one-eyed entertainer, the burgeoning performer sought a solution at the same venerable institution where other misfortunate starlets had gone to fill their vacant sockets: Mager & Gougelman, a family-owned business in New York City that has ...
Carnitine palmitoyltransferase II deficiency (also known as CPT-II deficiency) leads to an excess long chain fatty acids, as the body lacks the ability to transport fatty acids into the mitochondria to be processed as a fuel source. [75] The disease is caused by a defect in the gene CPT2. [76]