Learn About Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency

What is the definition of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency?

Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting).

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What are the causes of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency?

Variants (also known as mutations) in the HADHA gene cause LCHAD deficiency. The HADHA gene provides instructions for making part of an enzyme complex called mitochondrial trifunctional protein. This enzyme complex functions in mitochondria, the energy-producing centers within cells. As the name suggests, mitochondrial trifunctional protein contains three enzymes that each perform a different function. This enzyme complex is required to break down (metabolize) a group of fats called long-chain fatty acids. Long-chain fatty acids are found in foods such as milk and certain oils. These fatty acids are stored in the body's fat tissues. 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 Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency?

The incidence of LCHAD deficiency is unknown. One estimate, based on a Finnish population, indicates that 1 in 62,000 pregnancies is affected by this disorder. In the United States, the incidence is probably much lower.

Is Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency an inherited disorder?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have variants. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition.

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Who are the sources who wrote this article ?

Published Date: January 20, 2023Published By: National Institutes of Health

What are the Latest Advances for Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase 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.