Diseases/neonatal intrahepatic cholestasis due to citrin deficiency neonatal intrahepatic cholestasis due to citrin deficiency
Rare DiseaseMONDO:0011601
Also Known As
NICCDneonatal intrahepatic cholestasis caused by citrin deficiencyneonatal intrahepatic cholestasis due to citrin deficiencycholestasis, neonatal intrahepatic, caused by citrin deficiencycitrullinemia, type II, neonatal-onsetcitrullinemia, type II, neonatal-onset, with or without failure to thrive and dyslipidaemiacitrullinemia, type II, neonatal-onset, with or without failure to thrive and dyslipidemianeonatal-onset citrullinemia type 2neonatal-onset citrullinemia type II
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.
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Associated Genes
Gene data from MyGene.info • Click to view on NCBI Gene