Ethylmalonic encephalopathy (Q93832): Difference between revisions
From determinar.ia.br - Determine suas informações
Changed an Item |
Changed an Item |
||
| Property / Verification Status | |||
Concluído | |||
| Property / Verification Status: Concluído / rank | |||
Normal rank | |||
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 |
|---|---|---|---|
| default for all languages | ID_1966714550 |
||
| 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. |
Statements
CID11:ID_1966714550
0 references
dki-india-ID_1966714550
0 references
Concluído
0 references
