Цитруллинемия тип II
Определение
A severe subtype of citrin deficiency characterized clinically by adult onset (2 and 5 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.