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Citrullinemia Type II
Symptoms of Citrullinemia II (caused by a deficiency of a mitochondrial shuttle function), usually appear during adulthood and mainly affect the nervous system; some patients previously experienced neonatal intrahepatic cholestatic icterus. Characteristic features include confusion, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures, and coma. These signs and symptoms can be life-threatening, and are known to be triggered by certain medications, infections, and alcohol intake in people with type II citrullinemia. Intellectual disability is one of the main sequelae.(Source: Genetic and Rare Diseases Information Center)