citrullinemia type II
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.
MONDO:0016602
citrin deficiency
is_a
CTLN2
exact
adult-onset citrin deficiency
exact
adult-onset type 2 citrullinemia
exact
adult-onset type II citrullinemia
exact
citrullinemia type 2
exact
citrullinemia type II
exact