Jul 27, 2005 · Carnitine palmitoyltransferase 1A (CPT1A) deficiency is a disorder of long-chain fatty acid oxidation. Clinical manifestations usually occur in an individual with a concurrent …

Carnitine palmitoyltransferase I (CPT1) also known as carnitine acyltransferase I, CPTI, CAT1, CoA:carnitine acyl transferase (CCAT), or palmitoylCoA transferase I, is a mitochondrial …

The CPT1A gene provides instructions for making an enzyme called carnitine palmitoyltransferase 1A, which is found in the liver. This enzyme is essential for fatty acid oxidation, a multistep …

Carnitine palmitoyltransferase I deficiency (CPT1A deficiency) is an inherited metabolic condition that prevents the body from converting certain fats (long-chain fatty acids) into energy, …

Feb 1, 2020 · As the key rate-limiting enzyme of FAO, carnitine palmitoyltransferase I (CPT1) regulates FAO and facilitates adaptation to the environment, both in health and in disease, …

Mar 30, 2025 · CPT1A (Carnitine Palmitoyltransferase 1A) is a Protein Coding gene. Diseases associated with CPT1A include Carnitine Palmitoyltransferase I Deficiency and Carnitine …

Variants (also caused mutations) in the CPT1A gene cause CPT I deficiency. This gene provides instructions for making an enzyme called carnitine palmitoyltransferase 1A, which is found in …

Feb 20, 2025 · Clinical characteristics: Carnitine palmitoyltransferase 1A (CPT1A) deficiency is a disorder of long-chain fatty acid oxidation. Clinical manifestations usually occur in an individual …

Aug 11, 2020 · The CPT1A gene produces the carnitine palmitoyltransferase 1 enzyme, which breaks down long fatty acids. CPT1A deficiency is an autosomal recessive condition, which …

CPT1A deficiency is a very rare autosomal recessive disorder of mitochondrial fatty acid oxidation. 1 As explained above, mitochondrial fatty acid oxidation provides an alternative …