Neonatal intrahepatic cholestasis due to citrin deficiency

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: NICCD, neonatal intrahepatic cholestasis caused by citrin deficiency, neonatal intrahepatic cholestasis due to citrin deficiency, cholestasis, neonatal intrahepatic, caused by citrin deficiency, citrullinemia, type II, neonatal-onset, citrullinemia, type II, neonatal-onset, with or without failure to thrive and dyslipidaemia, citrullinemia, type II, neonatal-onset, with or without failure to thrive and dyslipidemia, neonatal-onset citrullinemia type 2

27 clinical trials for this condition and its sub-types.