citrullinemia, type II, adult-onset
Adult-onset citrullinemia type II is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. The condition chiefly affects the nervous system, causing confusion, restlessness, memory loss, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures, and coma. These signs and symptoms can be life-threatening. The signs and symptoms appear during adulthood and are triggered by certain medications, infections, surgery, and alcohol intake.The features of adult-onset type II citrullinemia may also develop in people who as infants had a liver disorder called neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). In many cases, the signs and symptoms of NICCD resolve within a year. Years or even decades later, however, some of these people develop the characteristic features of adult-onset type II citrullinemia.adult-onset citrullinemia type II is caused by mutations in the SLC25A13 gene. This condition is inherited in an autosomal recessive pattern.
MONDO:0016603
citrullinemia type II
is_a
CTLN2
related
adult-onset citrullinemia type 2
related
adult-onset citrullinemia type II
related
citrin deficiency
related
citrullinemia type 2
related
citrullinemia type II
related
citrullinemia, adult-onset type II
exact
citrullinemia, type II, adult-onset
exact