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Genetic and Rare Diseases Information Center (GARD)

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Neonatal intrahepatic cholestasis caused by citrin deficiency

Other Names for this Disease
  • Citrin deficiency
  • Neonatal-onset citrullinemia type 2
  • Neonatal-onset citrullinemia type II
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What are the signs and symptoms of neonatal intrahepatic cholestasis caused by citrin deficiency?

Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is characterized by transient intrahepatic cholestasis, diffuse fatty liver, hepatic fibrosis, low birth weight, growth retardation, hypoproteinemia, decreased coagulation factors, hemolytic anemia, hepatomegaly, variable liver dysfunction, and/or hypoglycemia in children younger than one year of age. NICCD is generally not severe, and symptoms typically disappear by age one year with appropriate treatment. At around age two, children with NICCD begin to show a particular fondness for protein-rich and fatty foods and an aversion to sugary and carbohydrate-rich foods. One of more decades later, some of these individuals develop neuropsychiatric symptoms characteristic of adult-onset citrullinemia type II.[1]  
Last updated: 7/11/2011

  1. Kobayashi K, Saheki T. Citrin Deficiency. GeneReviews. 2008; Accessed 7/11/2011.