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Causes
By Mayo Clinic staff
The cause of Gaucher's disease is a deficit of the enzyme glucocerebrosidase. This enzyme normally breaks down fatty substances (lipids) called glucocerebrosides. When the enzyme is scarce, however, the fatty substances can build up in your brain and other organs, and within your bone marrow.
Gaucher's disease is passed along in an inheritance pattern called autosomal recessive. Both parents must be carriers of a Gaucher's genetic mutation for their child to develop the condition. So far, researchers have noted more than 300 genetic mutations associated with Gaucher's disease. Even when both parents are carriers, there's still only a 25 percent chance that their child will develop the disease, compared with a 50 percent chance of their child being an unaffected carrier, and a 25 percent chance of his or her not being a carrier and not having the disease.
- 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.
