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).

Also known as: citrin deficiency

7 clinical trials for this condition and its sub-types, 3 tagged with Citrin deficiency itself.