Citrullinaemia type 2 (Q102736)
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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 |
||
| 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. |
Statements
CID11:ID_1572086295
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