Crigler Najjar syndrome, type 1
Other Names for this Disease
- Bilirubin uridinediphosphate glucuronosyltransferase deficiency
- Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1
- Bilirubin-UGT deficiency
- Bilirubin-UGT deficiency type 1
- Crigler-Najjar syndrome
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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.
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- Online Mendelian Inheritance in Man (OMIM) is a 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 Crigler Najjar syndrome, type 1. Click on the link to view a sample search on this topic.
- Labrune P. Crigler-Najjar syndrome. Orphanet Encyclopedia. 2004 Jan.