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Wilson disease
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Overview
Wilson disease is a rare inherited disorder in which excessive amounts of copper accumulate in the body. The buildup of copper leads to damage in the kidneys, brain, and eyes. Although copper accumulation begins at birth, symptoms of the disorder typically appear later in life.[1] Wilson disease is caused by a mutation of the ATP7B gene. People who have Wilson disease cannot release copper from the liver at a normal rate, causing a buildup of copper in the body.[2] This condition is inherited in an autosomal recessive manner. Treatment includes removing excess copper from the body, reducing intake of foods that are rich in copper and treating any liver or central nervous system damage.[3] Lifelong treatment is required.[2]
References
- NINDS Wilson's Disease Information Page. National Institute of Neurological Disorders and Stroke (NINDS). http://www.ninds.nih.gov/disorders/wilsons/wilsons.htm. Accessed February 19, 2010.
- Wilson Disease. National Digestive Diseases Information Clearinghouse (NDDIC). http://digestive.niddk.nih.gov/ddiseases/pubs/wilson/. Accessed February 19, 2010.
- Learning About Wilson Disease. National Human Genome Research Institute (NHGRI). http://www.genome.gov/27532725. Accessed February 19, 2010.
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General Information
- Genetics Home Reference (GHR) contains information on Wilson disease. Click on the link to go to GHR and review the information.
- 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 Center for Biotechnology Information (NCBI) was established in 1988 as a national resource for molecular biology information. Click on the link to view information on this topic.
- The National Digestive Diseases Information Clearinghouse (NDDIC), part of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), offers information on this condition. Click on the link to view information on this topic.
- The National Human Genome Research Institute's (NHGRI) mission encompasses a broad range of studies aimed at understanding the structure and function of the human genome and its role in health and disease. Click on the link to view the information page on this topic.
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on 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.
- 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 Wilson disease. 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 Wilson disease. Click on the link to go to OMIM and review these resources.