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Copyright 1986, 1994, 1995, 1997, 1998, 1999, 2001, 2002, 2003, 2004, 2007, 2009
NORD is very grateful to R.J. Desnick, PhD, MD, Professor and Chairman, Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine of New York University, for assistance in the preparation of this report.
Synonyms of Fabry Disease
- Alpha-Galactosidase A Deficiency
- Anderson-Fabry Disease
- Angiokeratoma Corporis Diffusum
- Angiokeratoma Diffuse
- Ceramide Trihexosidase Deficiency
- GLA Deficiency
- Hereditary Dystopic Lipidosis
Disorder Subdivisions
General Discussion
Fabry disease is a rare genetic disorder of lipid metabolism characterized by a deficiency of the enzyme alpha-galactosidase A, also known as ceramidetrihexosidase. The disorder belongs to a group of diseases known as lysosomal storage disorders. Lysosomes function as the primary digestive units within cells. Enzymes within lysosomes break down or digest particular nutrients, such as certain fats and carbohydrates. Absence or less than 1% of the alpha-galactosidase A enzyme results in the "classic" subtype of Fabry disease due to the abnormal accumulation of a substance consisting of fatty material and carbohydrates (i.e., glycolipids such as glycosphingolipid) in various organs of the body, particularly in the blood vessels. Symptoms of "classic" Fabry disease may include the appearance of clusters of wart-like discolorations on the skin (angiokeratomas), excruciating pain in the fingers and toes, and abdominal pain. Later in the course of the disease, kidney failure, heart disease, and/or strokes cause serious complications. Fabry disease, which is inherited as an X-linked trait, affects males and females. Males are more uniformly affected whereas females may be asymptomatic or severely affected as males due to "random X-inactivation." Patients with alpha-galactosidase A levels greater than 1% of normal have a somewhat milder "later-onset" subtype of the disease.
Organizations related to Fabry Disease
- CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
176 Nantwich Road
Crewe Intl CW2 6BG
Phone #: +44- 87-0 7700 325
800 #: --
e-mail: info.svcs@climb.org.uk
Home page: http://www.CLIMB.org.uk
- Canadian Society for Mucopolysaccharide and Related Diseases, Inc.
PO Box 64714
Unionville
Ontario Intl L3R OM9
Phone #: 905--47-9-8701
800 #: 800--66-7-1846
e-mail: lori.mps@rogers.com
Home page: http://www.mpssociety.ca
- Fabry Support & Information Group
108 NE 2nd Street, Suite C
P.O. Box 510
Concordia MO 64020-0510
Phone #: 660-463-1355
800 #: --
e-mail: info@fabry.org
Home page: http://www.fabry.org
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: ordr@od.nih.gov
Home page: http://rarediseases.info.nih.gov/Default.aspx
- Hide & Seek Foundation for Lysosomal Disease Research
6475 East Pacific Coast Highway Suite 466
Long Beach CA 90803
Phone #: 877-621-1122
800 #: N/A
e-mail: info@hideandseek.org
Home page: http://www.hideandseek.org
- Instituto de Errores Innatos del Metabolismo
Carrera 7 No 40 - 62
Bogota None None
Phone #: (57-1) -3208320
800 #: N/A
e-mail: abarrera@javeriana.edu.co
Home page: http://www.javeriana.edu.co
- International Center for Fabry Disease
Department of Human Genetics
Mt. Sinai School of Medicine
Box 1498
Fifth Avenue at 100th Street
New York NY 10029
Phone #: 212-659-6779
800 #: 800-322-7963
e-mail: fabry.disease@mssm.edu
Home page: http://www.mssm.edu/genetics/fabry
- MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: mums@netnet.net
Home page: http://www.netnet.net/mums/
- March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
Phone #: 914-997-4488
800 #: 888-663-4637
e-mail: Askus@marchofdimes.com
Home page: http://www.marchofdimes.com
- Morbus Fabry Homepage Germany
Web Site on the Internet
None None None
Phone #: --
800 #: --
e-mail: beck@pollux.kinder.klink.uni-mainz.de
Home page: http://www.home.t-online.de/home/026232710-0001/fabrye.htm
- National Fabry Disease Foundation (NFDF)
4301 Connecticut Ave. N.W.
Suite 404
Washington DC 20008-2369
Phone #: 919-732-9095
800 #: 800-651-9131
e-mail: info@TheNFDF.org
Home page: http://www.TheNFDF.org
- National Institute of Neurological Disorders and Stroke (NINDS)
P.O. Box 5801
Bethesda MD 20824
Phone #: 301-496-5751
800 #: 800-352-9424
e-mail: me20t@nih.gov
Home page: http://www.ninds.nih.gov/
- National MPS (Mucopolysaccharidoses/Mucolipidoses) Society, Inc.
PO Box 14686
Durham NC 27709-4686
Phone #: 919-806-0101
800 #: --
e-mail: info@mpssociety.org
Home page: http://www.mpssociety.org
- National Tay-Sachs and Allied Diseases Association, Inc.
2001 Beacon Street
Suite 204
Brighton MA 02135
Phone #: 617-277-4463
800 #: 800-906-8723
e-mail: info@ntsad.org
Home page: http://www.NTSAD.org
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