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.
