Citrullinaemia type 2 (Q102736): Difference between revisions
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Citrulinemia tipo 2 é um subtipo grave de deficiência de citrina caracterizada clinicamente por início na vida adulta (entre 20 e 50 anos de idade), episódios recorrentes de hiperamonemia e sintomas neuropsiquiátricos associados, como delírio noturno, confusão, inquietação, desorientação, sonolência, perda de memória, comportamento anormal (agressão, irritabilidade e hiperatividade), convulsões e coma. | |||
| description / en | description / en | ||
Citrullinemia type 2 is a severe subtype of citrin deficiency characterised clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behaviour (aggression, irritability, and hyperactivity), seizures, and coma. | |||
Revision as of 19:56, 16 August 2026
Citrullinemia type 2 is a severe subtype of citrin deficiency characterised clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behaviour (aggression, irritability, and hyperactivity), seizures, and coma.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1572086295 |
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| English | Citrullinaemia type 2 |
Citrullinemia type 2 is a severe subtype of citrin deficiency characterised clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behaviour (aggression, irritability, and hyperactivity), seizures, and coma. |
