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Crigler Najjar syndrome, type 2
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Overview
Crigler Najjar syndrome, type 2 is caused by mutations in the UGT1A1 gene. The gene mutation causes the body to be unable to make adequate enzyme to convert bilirubin into a form that can easily be removed from the body. Without this enzyme, bilirubin can build up in the body and lead to extraordinarily yellow skin and eyes (jaundice).[1] This condition is less severe than the type 1 form, however the severity of type II can vary greatly. Almost all patients with Crigler Najjar syndrome, type 2 develop normally, but there is a risk for some neurologic damage from kernicterus (bilirubin accumulation in the brain). In general people with type 2 Crigler Najjar syndrome have serum bilirubin levels ranging from 20 to 45 mg/dL.[2] Phenobarbital treatment is the standard therapy for this condition and can often help to drastically reduce the bilirubin levels.
References
- Crigler Najjar syndrome. MedlinePlus. http://www.nlm.nih.gov/medlineplus/ency/article/001127.htm. Accessed January 19, 2011.
- Crigler Najjar syndrome, type II. Online Mendelian Inheritance in Man. http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606785. Accessed January 19, 2011.
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General Information
- Genetics Home Reference (GHR) contains information on Crigler Najjar syndrome, type 2. Click on the link to go to GHR and review the information.
- 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, a Web site designed by the National Library of Medicine to help you research your health questions, provides more information about this topic. Click on the link to view this 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 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.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Crigler Najjar syndrome, type 2. Click on the link to view a sample search on this topic.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Crigler Najjar syndrome, type 2. Click on the link to go to OMIM and review these resources.
Selected Full-Text Journal Articles
- Labrune P. Crigler-Najjar syndrome. Orphanet Encyclopedia. 2004 Jan.