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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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