Ethylmalonic encephalopathy (Q93832): Difference between revisions
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A encefalopatia do ácido etilmalônico é definida pelo aumento de excreção do ácido etilmalônico com petéquias recorrentes, acrocianose ortostática e diarreia crônica associada a atraso no neurodesenvolvimento, regressão psicomotora e hipotonia com anormalidades de ressonância magnética. | |||
| description / en | description / en | ||
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. | |||
Revision as of 08:56, 16 August 2026
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 |
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| 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. |
