ICD-11 definition : 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 2, ), and by transient cholestasis and variable
hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to
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 2, ), and by transient cholestasis and variable
hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to
citrin deficiency, ).