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Pathway Description
Carnitine-Acylcarnitine Translocase Deficiency
Homo sapiens
Disease Pathway
Created: 2022-12-07
Last Updated: 2023-10-25
Carnitine-acylcarnitine translocase deficiency, also called CACT deficiency, is an extremely rare inherited inborn error of metabolism (IEM) of fatty acid oxidation. It is an autosomal recessive disorder caused by a defective carnitine-acylcarnitine translocase gene. Carnitine-acylcarnitine translocase is a transporter protein that is responsible for transporting carnitine-fatty acid complexes and carnitine across the inner mitochondrial membrane. Defects in the CACT enzyme prevent the shuttle-like action of carnitine from moving fatty acids across the mitochondrial membrane and therefore there is decreased fatty acid catabolism. As a result, CACT deficiency prevents the body from using certain fats for energy, particularly during periods without food (fasting). Individuals with CACT may have extremely low levels of ketones (hypoketosis) and low blood sugar (hypoglycemia). Together these signs are called hypoketotic hypoglycemia. Signs and symptoms of this disorder usually begin soon after birth and may include breathing problems, seizures, and an irregular heartbeat (arrhythmia). Individuals with CACT deficiency also usually have excess ammonia in the blood (hyperammonemia), an enlarged liver (hepatomegaly), and a weakened heart muscle (cardiomyopathy). Many CACT-deficient newborns do not survive. Others who are afflicted with a milder form of the disorder develop signs and symptoms in early childhood and are at risk for nervous system damage, liver failure, coma, and death.
References
Carnitine-Acylcarnitine Translocase Deficiency References
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