Browse
Explore conditions, clinical trials, and the organisations running them.
Up to: Urea cycle disorder or inherited hyperammonemia · Citrullinemia
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).
-
Citrullinemia type II 0 trials Sub-types →