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. Enzyme replacement therapy has been approved by the U.S. Food and Drug Administration for the treatment of Fabry disease.  Enzyme replacement therapy can reduce lipid storage, ease pain, and improve organ function.  The pain that accompanies the disease may be treated with anticonvulsants such as phenytoin and carbamazepine.  Gastrointestinal hyperactivity may be treated with metoclopramide.  Some individuals may require dialysis or kidney transplantation. Patients with Fabry disease often die prematurely of complications from strokes, heart disease, or renal failure. The National Institute of Neurological Disorders and Stroke (NINDS), a component of the National Institutes of Health, supports research to find ways to treat and prevent lipid storage diseases such as Fabry disease. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search&term=fabry+disease+AND+human[mh]+AND+english[la]&db=PubMed&orig_db=PubMed&filters=on&ampmfilter_EDatLimit=2+Years 1 http://clinicaltrials.gov/ct2/results?term= /disorders/fabrys/pubs_fabrys.htm /disorders/fabrys/xml_fabrys.xml xml_fabrys.xml V818 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 660-463-1355 660-463-1356 Non-profit support and information group that works to raise awareness of Fabry disease and its symptoms. Offers a variety of self-help, educational, and advocacy initiatives and programs in an effort to enhance identification, diagnosis, and treatment of Fabry disease. V223 National Tay-Sachs and Allied Diseases Association

2001 Beacon Street

Suite 204 Boston MA 02135 info@ntsad.org http://www.ntsad.org 800-90-NTSAD (906-8723) 617-277-0134 The mission of the National Tay-Sachs & Allied Diseases Association is to lead the fight to treat and cure Tay-Sachs, Canavan and related genetic diseases and to support affected families and individuals in leading fuller lives. V91 National Organization for Rare Disorders (NORD)

55 Kenosia Avenue

Danbury CT 06810 orphan@rarediseases.org http://www.rarediseases.org 203-744-0100 Voice Mail 800-999-NORD (6673) 203-798-2291 Federation of voluntary health organizations dedicated to helping people with rare "orphan" diseases and assisting the organizations that serve them. Committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and service. V921 National Fabry Disease Foundation

4301 Connecticut Avenue, NW

Suite 404 Washington DC 20008-2369 info@fabrydisease.org www.fabrydisease.org 800-651-9131 800-651-9135