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Crigler Najjar Syndrome

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Crigler Najjar Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • Hereditary Unconjugated Hyperbilirubinemia
  • Familial Nonhemolytic Unconjugated Hyperbilirubinemia

Disorder Subdivisions

  • Bilirubin Glucuronosyltransferase Deficiency Type I
  • Uridine Diphosphate Glucuronosyltransferase, Severe Def. Type I
  • Congenital Familial Nonhemolytic Jaundice Type I
  • Congenital Familial Nonhemolytic Jaundice Type

General Discussion

Crigler-Najjar syndrome is a rare genetic disorder characterized by elevated levels of bilirubin in the blood (hyperbilirubinemia). Bilirubin is a yellowish waste product that is formed when the liver breaks down old or worn out red blood cells (hemolysis). Individuals with Crigler-Najjar syndrome develop hyperbilirubinemia in the absence of hemolysis. The elevated bilirubin levels occur because affected individuals lack a specific liver enzyme required to break down (metabolize) bilirubin. The hallmark finding of Crigler-Najjar syndrome is persistent yellowing of the skin, mucous membranes and whites of the eyes (jaundice). There are two forms of this disorder: Crigler-Najjar syndrome type I, characterized by a nearly complete lack of enzyme activity and severe symptoms; and Crigler-Najjar syndrome type II, characterized by partial enzyme activity and milder symptoms. Most cases of Crigler-Najjar syndrome are inherited as autosomal recessive traits and are due to errors or disruptions (mutations) of the UGT1 gene located on chromosome 2.

Resources

CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
176 Nantwich Road
Crewe, CW2 6BG
United Kingdom
Tel: 4408452412173
Fax: 4408452412174
Email: enquiries@climb.org.uk
Internet: http://www.CLIMB.org.uk

American Liver Foundation
39 Broadway, Suite 2700
New York, NY 10006
USA
Fax: (212)483-8179
Tel: (800)465-4837
Email: http://www.liverfoundation.org/contact/
Internet: http://www.liverfoundation.org

Children's Liver Disease Foundation
36 Great Charles Street
Birmingham, B3 3JY
United Kingdom
Tel: 01212123839
Fax: 01212124300
Email: info@childliverdisease.org
Internet: http://www.childliverdisease.org

Parents of Infants and Children with Kernicterus (P.I.C.K.)
One W. Superior Street
Suite 2410
Chicago, IL 60610
USA
Tel: (312)274-9695
Email: info@pickonline.org
Internet: http://www.pickonline.org/

Crigler-Najjar Association/King's Way Foundation
c/o Cory Mauck
3134 Bayberry Street
Wichita, KS 67226
Tel: (316)685-7477
Email: mauckc@msn.com
Internet: http://www.criglernajjar.com

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Internet: http://rarediseases.info.nih.gov/GARD/

Madisons Foundation
PO Box 241956
Los Angeles, CA 90024
Tel: (310)264-0826
Fax: (310)264-4766
Email: getinfo@madisonsfoundation.org
Internet: http://www.madisonsfoundation.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  3/27/2008
Copyright  1997, 1998, 2002, 2008 National Organization for Rare Disorders, Inc.

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