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neonatal intrahepatic cholestasis due to citrin deficiency

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description 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.
Uniprot Description A form of citrullinemia type 2 with neonatal onset, characterized by suppression of the bile flow, hepatic fibrosis, low birth weight, growth retardation, hypoproteinemia, variable liver dysfunction. Neonatal intrahepatic cholestasis due to citrin deficiency is generally not severe and symptoms disappear by one year of age with an appropriate diet. Years or even decades later, however, some individuals develop the characteristic features of citrullinemia type 2 with neuropsychiatric symptoms.
Mondo Term and Equivalent IDs
MONDO:0011601:  neonatal intrahepatic cholestasis due to citrin deficiency
GARD:0010214: 
MESH:C536398: 
Orphanet:247598: 
SCTID:717155003: 
UMLS:C1853942: 
UMLS:C4274030: