Patients affected with EE are typically identified shortly after birth, with symptoms including diarrhea, petechiae and seizures.

[3] Neurologic signs and symptoms include progressively delayed development, weak muscle tone (hypotonia), seizures, and abnormal movements.

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).

Problems with the nervous system typically worsen over time, and most affected individuals survive only into early childhood.

It remains unclear how a loss of the ETHE1 enzyme leads to progressive brain dysfunction and the other features of ethylmalonic encephalopathy.