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.
