Adult-onset citrullinaemia type 1 (Q102729): Difference between revisions
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Citrulinemia tipo 1 de início na idade adulta é uma forma de citrulinemia tipo 1 caracterizada clinicamente pelo início dos sintomas em adultos, incluindo hiperamonemia variável e achados neurológicos menos marcantes, que podem incluir cefaleia intensa, escotomas, episódios semelhantes à enxaqueca, ataxia, fala arrastada, letargia e sonolência . Pode ocorrer aumento grave da pressão intracraniana. | |||
| description / en | description / en | ||
Adult-onset citrullinemia type 1 is a form of citrullinemia type 1 characterised clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy, and drowsiness. Serious increased intracranial pressure may occur. | |||
Revision as of 19:56, 16 August 2026
Adult-onset citrullinemia type 1 is a form of citrullinemia type 1 characterised clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy, and drowsiness. Serious increased intracranial pressure may occur.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_429215356 |
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| English | Adult-onset citrullinaemia type 1 |
Adult-onset citrullinemia type 1 is a form of citrullinemia type 1 characterised clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy, and drowsiness. Serious increased intracranial pressure may occur. |
