HADH : hydroxyacyl-CoA dehydrogenase

Description

The HADH gene provides instructions for making a protein called hydroxyacyl-CoA dehydrogenase, a critical enzyme involved in the breakdown of fatty acids. This process, known as beta-oxidation, is essential for generating energy from fat. HADH is particularly active in the liver and heart, where it plays a vital role in maintaining cellular function. Mutations in the HADH gene can disrupt this process, leading to various health problems.

Associated Diseases

• Medium-chain acyl-CoA dehydrogenase deficiency (MCADD)
• Short-chain acyl-CoA dehydrogenase deficiency (SCADD)
• Glutaric acidemia type II (GAII)
• Hypoglycemia

Did you know?

HADH mutations are particularly common in individuals of Scandinavian descent.