Ethylmalonic encephalopathy

Ethylmalonic acid encephalopathy (EE) is defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging (MRI) abnormalities.

Also known as: EE, EPEMA syndrome, eme, encephalopathy, ethylmalonic, encephalopathy, petechiae, and ethylmalonic aciduria, syndrome of encephalopathy, petechiae, and ethylmalonic aciduria

13 clinical trials for this condition and its sub-types, 0 tagged with Ethylmalonic encephalopathy itself.