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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.
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.
Your Questions Answeredby the Genetic and Rare Diseases Information Center
Please contact us with your questions about Crigler Najjar syndrome, type 1. We will answer your question and update these pages with new resources and information.
- Genetics Home Reference (GHR) contains information on Crigler Najjar syndrome, type 1. This website is maintained by the National Library of Medicine.
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- 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.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- 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.