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  • Molecular assay reagents intended to identify mutations in the hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit (HADHA) gene, located at chromosome 2p23, which encodes for part of an enzyme complex called the mitochondrial trifunctional protein, producing the alpha subunit. Mutations at this locus have been identified in patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (trifunctional protein deficiency, type 1); they are also present in patients with acute fatty liver of pregnancy and with a disease characterized by simultaneous hemolysis, elevated liver enzyme levels, and a low number of platelets (HELLP syndrome).
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