Learn About Carnitine-Acylcarnitine Translocase Deficiency

What is the definition of Carnitine-Acylcarnitine Translocase Deficiency?

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).

Save information for later
Sign Up
What are the causes of Carnitine-Acylcarnitine Translocase Deficiency?

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.

How prevalent is Carnitine-Acylcarnitine Translocase Deficiency?

CACT deficiency is very rare; at least 30 cases have been reported.

Is Carnitine-Acylcarnitine Translocase Deficiency an inherited disorder?

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.

Who are the top Carnitine-Acylcarnitine Translocase Deficiency Local Doctors?
Elite
Distinguished
 
 
 
 
Learn about our expert tiers
Learn more
Distinguished
What are the latest Carnitine-Acylcarnitine Translocase Deficiency Clinical Trials?
Match to trials
Find the right clinical trials for you in under a minute
Get started
Who are the sources who wrote this article ?

Published Date: November 01, 2015Published By: National Institutes of Health

What are the Latest Advances for Carnitine-Acylcarnitine Translocase Deficiency?

There is no recent research available for this condition. Please check back because thousands of new papers are published every week and we strive to find and display the most recent relevant research as soon as it is available.