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Pathway Description
Carnitine Palmitoyl Transferase Deficiency I
Homo sapiens
Disease Pathway
Created: 2022-12-05
Last Updated: 2023-10-25
Carnitine palmitoyltransferase I deficiency, which is also known as CPT I deficiency, is a very rare inherited inborn error of metabolism (IEM) leading to muscle weakness. Fewer than 50 people have been identified with this condition. It is an autosomal recessive disorder associated with a mutation in the enzyme carnitine palmitoyltransferase I. Carnitine palmitoyltransferase I (CPT1) is also known as carnitine acyltransferase I (CAT1), CoA:carnitine acyl transferase (CCAT), or palmitoylCoA transferase I. CPT I is a mitochondrial enzyme. It is responsible for the formation of acylcarnitines by catalyzing the transfer of the acyl group of a long-chain fatty acyl-CoA from CoA to carnitine. Carnitine, a natural substance acquired mostly through the diet, is used by cells to process fats and produce energy. Defects in CPT I prevents the body from using certain fats for energy, particularly during periods of fasting. Affected individuals often have increased carnitine levels along with low blood sugar (hypoglycemia) and a low level of ketones (hypoketosis), which are produced during fat metabolism as an energy source. Together these signs are termed hypoketotic hypoglycemia. The condition's severity varies greatly among affected individuals and many of the signs and symptoms manifest during early childhood. People with CPT I deficiency can also have an enlarged liver (hepatomegaly) and liver malfunction. CPT I deficienct individuals are at risk for liver failure, nervous system damage, seizures, coma, and sudden death. Affected individuals should eat a high-carbohydrate, low-fat diet and avoid fasting.
References
Carnitine Palmitoyl Transferase Deficiency I References
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