Citrin deficiency (Q88506)

Citrin deficiency is a rare autosomal recessive urea cycle defect characterised clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type 2, ), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency, ).