Ethylmalonic 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. The disease manifests at birth or in the first few months of life. (Source: Orphanet)

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