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Definition
By Mayo Clinic staffGaucher's (go-SHAYZ) disease occurs when certain harmful fatty substances build to excessive levels in your liver, spleen, lungs, bone marrow and, less commonly, your brain. This accumulation of fatty material in tissues interferes with the normal functioning of the body's organs, and may cause organ enlargement and bone pain.
Gaucher's disease is caused by a deficiency of the enzyme glucocerebrosidase, which helps the body metabolize the fatty substance glucocerebroside. The disease is sometimes called glucocerebrosidase deficiency.
Gaucher's disease can occur at any age. It's most common in Eastern and Central European (Ashkenazi) Jewish people.
Treatment for Gaucher's disease may involve enzyme replacement and other therapies.
- Eng CM. Genetics; clinical manifestations; and diagnosis of Gaucher disease. http://www.uptodate.com/home/index.html. Accessed May 22, 2009.
- Lysososmal storage disorders. The Merck Manuals: The Merck Manual for Healthcare Professionals. http://www.merck.com/mmpe/print/sec19/ch296/ch296f.html. Accessed May 26, 2009.
- Learning about Gaucher disease. National Human Genome Research Institute. http://www.genome.gov/25521505. Accessed May 27, 2009.
- NINDS Gaucher's disease information page. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/gauchers/gauchers.htm. Accessed May 27, 2009.
- Hopkin RJ, et al. Lysosomal storage diseases. In: Fauci AS, et al. Harrison's Principles of Internal Medicine. 17th ed. New York, N.Y.: McGraw-Hill Medical; 2008. http://www.accessmedicine.com/content.aspx?aID=2903685. Accessed May 27, 2009.
- Beutler E. Lipid storage diseases. In: Lichtman MA, et al. Williams Hematology. 7th ed. New York, N.Y.: McGraw-Hill Medical; 2006. http://www.accessmedicine.com/content.aspx?aID=2146463. Accessed May 27, 2009.
- Anderson HC, et al. Individualization of long-term enzyme replacement therapy for Gaucher disease. Genetics in Medicine. 2005;7:105.
- Zavesca (prescribing information). San Francisco, Calif.: Actelion Pharmaceuticals Inc.; 2008. http://www.zavesca.com/pdfs/zavesca_pi.pdf. Accessed May 26, 2009.
