HADHA : hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha

Description

The HADHA gene provides instructions for making a protein called long-chain hydroxyacyl-CoA dehydrogenase. This protein is a crucial component of the mitochondrial beta-oxidation pathway, which breaks down fatty acids to generate energy. The HADHA protein specifically catalyzes the fourth step of this pathway, converting long-chain 3-hydroxyacyl-CoA into 3-ketoacyl-CoA. Disruptions in the HADHA gene can lead to various metabolic disorders.

Associated Diseases

• Medium-chain acyl-CoA dehydrogenase deficiency (MCADD)
• Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD)
• Neonatal-onset mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS)

Did you know?

Mutations in the HADHA gene can lead to a build-up of fatty acids in the blood, which can cause a variety of health problems, including liver damage, heart problems, and neurological disorders.