Ethylmalonic encephalopathy

Ethylmalonic encephalopathy (EE) is an inherited disease characterized by abnormalities of the nervous system, gastrointestinal tract, and blood vessels. It involves defects in the enzyme ETHE1, which is thought to play an important role in energy production. Symptoms associated with EE are due to reduced energy production in cells and a toxic build-up of metabolites in the body. View testing options