Catalog

Neonatal intrahepatic cholestasis caused by citrin deficiency

No MMS code

Link to WHO Definition

Neonatal intrahepatic cholestasis caused by citrin deficiency – http://id.who.int/icd/entity/987981591

Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency characterised clinically by low birth weight, failure to thrive, growth retardation, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, haemolytic anaemia, variable but mostly mild liver dysfunction, and hypoglycaemia.