HADHA gene mutation; long chain enoyl CoA hydratase gene mutation

Clinical significance

• defects in HADHA are a cause of trifunctional protein deficiency
• defects in HADHA are the cause of long-chain 3-hydroxyl-CoA dehydrogenase deficiency
• defects in HADHA are a cause of maternal acute fatty liver of pregnancy

More general terms

• gene mutation testing; gene mutation analysis

Additional terms

• trifunctional enzyme subunit alpha, mitochondrial; TP-alpha; 78 kD gastrin-binding protein [includes: long-chain enoyl-CoA hydratase; long chain 3-hydroxyacyl-CoA dehydrogenase] (HADHA, HADH)