Ethylmalonic encephalopathy is a rare autosomal recessive genetic disorder defined as an inborn error of metabolism. It affects several body systems, including the gastrointestinal system, circulatory system, and particularly the nervous system
Neurologic signs and symptoms include progressively delayed development, weak muscle tone (hypotonia), seizures, and abnormal movements. The body's network of blood vessels is also affected. Children with this disorder may experience rashes of tiny red spots (petechiae) caused by bleeding under the skin and blue discoloration in the hands and feet due to reduced oxygen in the blood (acrocyanosis). Chronic diarrhea is another common feature of ethylmalonic encephalopathy.
Mutations in the ETHE1 gene cause ethylmalonic encephalopathy. The ETHE1 gene makes an enzyme that plays an important role in energy production. It is active in mitochondria, which are the energy-producing centers within cells. Little is known about its exact function, however.