ETFA : electron transfer flavoprotein subunit alpha

Description

The ETFA gene, located on chromosome 19, provides instructions for making a protein called electron transfer flavoprotein alpha subunit. This protein is crucial for the breakdown of fatty acids, which are a major source of energy for the body. ETFA acts as an electron carrier in the mitochondria, transferring electrons from various enzymes involved in fatty acid metabolism to the electron transport chain. This chain is essential for producing ATP, the energy currency of cells. Defects in ETFA can lead to a variety of disorders, affecting the body‘s ability to utilize fatty acids for energy.

Associated Diseases

• Multiple acyl-CoA dehydrogenase deficiency (MADD)
• Glutaric acidemia type II (GA-2)
• Carnitine palmitoyltransferase deficiency (CPT deficiency)
• Hypoglycemia

Did you know?

ETFA deficiency can lead to a characteristic odor in urine, described as ‘sweaty feet‘ or ‘burnt sugar‘.