Neonatal intrahepatic cholestasis due to citrin deficiency
Neonatal intrahepatic cholestasis due to citrin deficiency
Definition
Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency characterized clinically by low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia.
Also known as neonatal intrahepatic cholestasis caused by citrin deficiency, neonatal intrahepatic cholestasis due to citrin deficiency, NICCD — per MONDO