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.
MONDO:0016602
citrin deficiency
is_a
NICCD
exact
citrullinemia, type II, neonatal-onset, with or without failure to thrive and dyslipidaemia
related
neonatal intrahepatic cholestasis caused by citrin deficiency
exact
neonatal intrahepatic cholestasis due to citrin deficiency
exact
neonatal-onset citrullinemia type 2
related
neonatal-onset citrullinemia type II
related