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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

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

References

  1. Citrullinemia. Genetics Home Reference (GHR). 2006; http://www.ghr.nlm.nih.gov/condition=citrullinemia. Accessed 7/11/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Neonatal intrahepatic cholestasis caused by citrin deficiency. This website is maintained by the National Library of Medicine.
  • MedlinePlus.gov provides more information on urea cycle disorders in general. MedlinePlus is a Web site designed by the National Library of Medicine to help you research your health questions.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Neonatal intrahepatic cholestasis caused by citrin deficiency. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Citrin deficiency
  • Neonatal-onset citrullinemia type 2
  • Neonatal-onset citrullinemia type II
  • NICCD
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.