Ethylmalonic encephalopathy

Definition

Ethylmalonic acid encephalopathy (EE) 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.

Disease data

Classification

Disease

ORPHA code

51188

OMIM code

602473

ICD10 code

E88.8

ICD11 code

*Soruce