Catalog

Citrin deficiency

No MMS code

Link to WHO Definition

Citrin deficiency – http://id.who.int/icd/entity/348535193

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, ).