ETHE1 : ETHE1 persulfide dioxygenase

Description

The ETHE1 gene provides instructions for making an enzyme called ethylmalonic-CoA decarboxylase (ETHE1). This enzyme is essential for the breakdown of certain fatty acids, a crucial process for energy production in the body. When the ETHE1 gene is mutated, it can lead to a deficiency in the ETHE1 enzyme, resulting in a build-up of toxic substances that can damage the nervous system and other organs.

Associated Diseases

• Ethylmalonic Encephalopathy (EE)
• Multiple Acyl-CoA Dehydrogenase Deficiency (MADD)
• Glutaric Aciduria Type 1 (GA1)

Did you know?

ETHE1 mutations are often associated with a characteristic odor in affected individuals, described as a ‘sweaty feet‘ smell.