Catalog

Ethylmalonic encephalopathy

No MMS code

Link to WHO Definition

Ethylmalonic encephalopathy – http://id.who.int/icd/entity/1966714550

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