ETFDH : electron transfer flavoprotein dehydrogenase

Description

ETFDH, also known as electron-transferring flavoprotein dehydrogenase, is a crucial enzyme in the mitochondrial respiratory chain. It plays a vital role in the oxidation of fatty acids and amino acids, ultimately contributing to ATP production. ETFDH facilitates the transfer of electrons from various substrates to the electron transport chain, a process essential for energy generation. Additionally, ETFDH may have a role in neuronal function and development, as its deficiency has been linked to neurological disorders.

Associated Diseases

• Multiple acyl-CoA dehydrogenase deficiency (MADD)
• Glutaric acidemia type II (GA II)
• Hypoketotic hypoglycemia
• Neurological disorders, including encephalopathy and seizures

Did you know?

Mutations in the ETFDH gene can lead to a variety of symptoms, including lethargy, vomiting, and seizures, depending on the severity of the deficiency.