Ethylmalonic encephalopathy (Q93832)
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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.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1966714550 |
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| English | Ethylmalonic encephalopathy |
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. |
