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Crigler Najjar syndrome, type 1
Other Names for this Disease
- Crigler-Najjar syndrome, type I
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bilirubin, a substance made by the liver, cannot be broken down. This condition occurs when the enzyme that normally converts bilirubin into a form that can easily be removed from the body does not work correctly. Without this enzyme, bilirubin can build up in the body and lead to jaundice and damage to the brain, muscles, and nerves. Crigler Najjar syndrome, type 1 is caused by mutations in the UGT1A1 gene. The condition is inherited in an autosomal recessive manner. Treatment relies on regular phototherapy throughout life. Blood transfusions and calcium compounds have also been used. Liver transplantation may be considered in some individuals.Crigler Najjar syndrome, type 1 is an inherited disorder in which
Last updated: 2/8/2011
- Haldeman-Englert C. Crigler-Najjar syndrome. MedlinePlus. 2010; http://www.nlm.nih.gov/medlineplus/ency/article/001127.htm.
- UGT1A1. Genetics Home Reference (GHR). 2011; http://ghr.nlm.nih.gov/gene/UGT1A1. Accessed 2/8/2011.
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- Genetics Home Reference (GHR) contains information on Crigler Najjar syndrome, type 1. This website is maintained by the National Library of Medicine.
- Genetics Home Reference (GHR) contains a gene summary on UGT1A1. Mutations in UGT1A1 can cause Crigler Najjar syndrome. Click on the link to go to GHR and review this gene summary.
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic. Click on the link to view this information.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
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) database contains genetics resources that discuss Crigler Najjar syndrome, type 1. Click on the link to go to OMIM and review these resources.
- 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 Crigler Najjar syndrome, type 1. Click on the link to view a sample search on this topic.
Selected Full-Text Journal Articles
- Labrune P. Crigler-Najjar syndrome. Orphanet Encyclopedia. 2004 Jan.