Carnitine-acylcarnitine translocase (CACT) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). Signs and symptoms of this disorder usually begin soon after birth and may include breathing problems, seizures, and an irregular heartbeat (arrhythmia). Affected individuals typically have low blood sugar (hypoglycemia) and a low level of ketones, which are produced during the breakdown of fats and used for energy. Together these signs are called hypoketotic hypoglycemia. People with CACT deficiency also usually have excess ammonia in the blood (hyperammonemia), an enlarged liver (hepatomegaly), and a weakened heart muscle (cardiomyopathy).
Mutations in the SLC25A20 gene cause CACT deficiency. This gene provides instructions for making a protein called carnitine-acylcarnitine translocase (CACT). This protein is essential for fatty acid oxidation, a multistep process that breaks down (metabolizes) fats and converts them into energy. Fatty acid oxidation takes place within mitochondria, which are the energy-producing centers in cells. A group of fats called long-chain fatty acids must be attached to a substance known as carnitine to enter mitochondria. Once these fatty acids are joined with carnitine, the CACT protein transports them into mitochondria. Fatty acids are a major source of energy for the heart and muscles. During periods of fasting, fatty acids are also an important energy source for the liver and other tissues.
CACT deficiency is very rare; at least 30 cases have been reported.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Chengfang Tang practices in Puerto Rico. Tang is rated as an Elite expert by MediFind in the treatment of Carnitine-Acylcarnitine Translocase Deficiency. They are also highly rated in 2 other conditions, according to our data. Their top areas of expertise are Carnitine-Acylcarnitine Translocase Deficiency, GM1 Gangliosidosis, Gangliosidosis, and Gaucher Disease Type 3.
Zeenat Hussain is an Internal Medicine expert in East Setauket, New York. Hussain has been practicing medicine for over 33 years and is rated as a Distinguished expert by MediFind in the treatment of Carnitine-Acylcarnitine Translocase Deficiency. She is also highly rated in 4 other conditions, according to our data. Her top areas of expertise are Carnitine-Acylcarnitine Translocase Deficiency, Primary Carnitine Deficiency, Peroxisomal Acyl-CoA Oxidase Deficiency, and Chronic Kidney Disease. She is licensed to treat patients in New York. Hussain is currently accepting new patients.
Anita Macdonald practices in Birmingham, United Kingdom. Macdonald is rated as a Distinguished expert by MediFind in the treatment of Carnitine-Acylcarnitine Translocase Deficiency. She is also highly rated in 22 other conditions, according to our data. Her top areas of expertise are Dihydropteridine Reductase Deficiency, Phenylketonuria (PKU), Inborn Amino Acid Metabolism Disorder, Colostomy, and Liver Embolization.
Published Date: November 01, 2015Published By: National Institutes of Health
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