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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
  • NICCD
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Overview



What is neonatal intrahepatic cholestasis caused by citrin deficiency?

What are the signs and symptoms of neonatal intrahepatic cholestasis caused by citrin deficiency?


What is neonatal intrahepatic cholestasis caused by citrin deficiency?

Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a liver condition is also known as neonatal-onset type II citrullinemia. NICCD blocks the flow of bile (a digestive fluid produced by the liver) and prevents the body from processing certain nutrients properly. This leads to transient intrahepatic cholestasis and variable liver dysfunction in children younger than one year of age. NICCD is generally not severe, and symptoms disappear by age one year with appropriate treatment. Years or even decades later, however, some of these individuals develop the characteristic features of adult-onset type II citrullinemia. NICCD is caused by mutations in the SLC25A13 gene. This condition is inherited in an autosomal recessive pattern.[1]
Last updated: 7/11/2011

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.[2]  
Last updated: 7/11/2011

References
  1. Citrullinemia. Genetics Home Reference (GHR). 2006; http://www.ghr.nlm.nih.gov/condition=citrullinemia. Accessed 7/11/2011.
  2. Kobayashi K, Saheki T. Citrin Deficiency. GeneReviews. 2008; http://www.ncbi.nlm.nih.gov/books/NBK1181/. Accessed 7/11/2011.