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IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, HADHA

Definition : 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).

Entry Terms : "Trifunctional Protein Deficiency Type 1 Gene Mutation Detection Reagents" , "Long-Chain 3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency Gene Mutation Detection Reagents" , "HADHA Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, HADHA"

UMDC code : 24455

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