Fabry disease is caused by the lack of or faulty enzyme needed to metabolize lipids, fat-like substances that include oils, waxes, and fatty acids. The disease is also called alpha-galactosidase-A deficiency. A mutation in the gene that controls this enzyme causes insufficient breakdown of lipids, which build up to harmful levels in the eyes, kidneys, autonomic nervous system, and cardiovascular system. Fabry disease is one of several lipid storage disorders and the only X-linked lipid storage disease. Since the gene that is altered is carried on a mother’s X chromosome, her sons have a 50 percent chance of inheriting the disorder and her daughters have a 50 percent chance of being a carrier. A milder form is common in females, and occasionally some affected females may have severe manifestations similar to males with the disorder. Symptoms usually begin during childhood or adolescence and include burning sensations in the hands that gets worse with exercise and hot weather and small, non-cancerous, raised reddish-purple blemishes on the skin. Some boys will also have eye manifestations, especially cloudiness of the cornea. Lipid storage may lead to impaired arterial circulation and increased risk of heart attack or stroke. The heart may also become enlarged and the kidneys may become progressively involved. Other signs include decreased sweating, fever, and gastrointestinal difficulties.
Patients with Fabry disease often die prematurely of complications from strokes, heart disease, or renal failure.
Fabry Support & Information Group 108 NE 2nd Street, Ste. C P.O. Box 510 Concordia, MO 64020-0510 info@fabry.org http://www.fabry.org Tel: 660-463-1355 Fax: 660-463-1356 |
National Tay-Sachs and Allied Diseases Association 2001 Beacon Street Suite 204 Boston, MA 02135 info@ntsad.org http://www.ntsad.org Tel: 800-90-NTSAD (906-8723) Fax: 617-277-0134 |
National Organization for Rare Disorders (NORD) 55 Kenosia Avenue Danbury, CT 06810 orphan@rarediseases.org http://www.rarediseases.org Tel: 203-744-0100 Voice Mail 800-999-NORD (6673) Fax: 203-798-2291 |
National Fabry Disease Foundation 4301 Connecticut Avenue, NW Suite 404 Washington, DC 20008-2369 info@fabrydisease.org www.fabrydisease.org Tel: 800-651-9131 Fax: 800-651-9135 |
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National Institute of Neurological Disorders and Stroke
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Last updated October 6, 2011