citrin deficiency
Citrin deficiency is a rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type II), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency).
MONDO:0015991
citrullinemia
is_a
MONDO:0800153
urea cycle disorder or inherited hyperammonemia
is_a
citrin deficiency
exact