Citrullinemia type II
Citrullinemia type II
Definition
Citrullinemia type II is a severe subtype of citrin deficiency characterized 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 behavior (aggression, irritability, and hyperactivity), seizures, and coma.
Also known as adult-onset citrin deficiency, adult-onset type 2 citrullinemia, adult-onset type II citrullinemia, citrullinemia type 2, citrullinemia type II, CTLN2 — per MONDO