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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 March 3, 2011.
- Lysososmal storage disorders. The Merck Manuals: The Merck Manual for Healthcare Professionals. http://www.merck.com/mmpe/print/sec19/ch296/ch296f.html. Accessed March 6, 2011.
- Learning about Gaucher disease. National Human Genome Research Institute. http://www.genome.gov/25521505. Accessed March 6, 2011.
- NINDS Gaucher's disease information page. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/gauchers/gauchers.htm. Accessed March 6, 2011.
- Eng CM. Treatment of Gaucher disease. http://www.uptodate.com/home/index.html. Accessed March 3, 2011.
- Mistry PK, et al. A reappraisal of Gaucher disease — diagnosis and disease management algorithms. American Journal of Hematology. http://wileyonlinelibrary.com/cgi-bin/jhome/35105. Accessed March 3, 2011.
- ACOG committee opinion: Preconception and prenatal carrier screening for genetic diseases in individuals of eastern European Jewish descent. Obstetrics & Gynecology. 2009;114:950.
- Piran S, et al. Gaucher disease: A systematic review and meta-analysis of bone complications and their response to treatment. Journal of Inherited Metabolic Disease. 2010;33:271.
- Gross SJ, et al. ACMG practice guidelines: Carrier screening in individuals of Ashkenazi Jewish descent. Genetics in Medicine. 2008;10:54.
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