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HomePediatrics: Genetics and Metabolic DiseaseLong-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency

Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency


Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) is 1 of 3 enzymatic activities that make up the trifunctional protein of the inner mitochondrial membrane. The other 2 activities of the protein are 2-enoyl coenzyme A (CoA) hydratase (LCEH) and long-chain 3-ketoacyl CoA thiolase (LCKT). The protein is an octamer composed of 4 alpha subunits that contain the LCEH and LCHAD activities and 4 beta subunits that contain the LCKT activity. This enzyme complex metabolizes long-chain fatty acids, and LCHAD activity is specific for compounds of C12-C16 chain length. The genes for the alpha and beta subunits have been localized to chromosome 2. The HADHA gene has been cloned, and a common mutation, c.1528G>C, has been identified in the mutant alleles of LCHAD deficiency.

LCHAD deficiency is a severe fatty acid oxidation disorder that is fatal if untreated.
Infants with LCHAD deficiency, which is inherited as an autosomal recessive trait, present in infancy with acute hypoketotic hypoglycemia.
These episodes typically appear for the first time after a fast, which usually occurs in the context of intercurrent illness with vomiting.

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