Catalog

Citrullinaemia type 2

No MMS code

Link to WHO Definition

Citrullinaemia type 2 – http://id.who.int/icd/entity/1572086295

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.