Fabry Disease / Disease

Diseases & Conditions

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Fabry Disease

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
Crewe Intl CW2 6BG
Phone #: +44- 87-0 7700 325
800 #: --
e-mail: [email protected]
Home page: http://www.CLIMB.org.uk
Canadian Society for Mucopolysaccharide and Related Diseases, Inc.
PO Box 64714
Ontario Intl L3R OM9
Phone #: 905--47-9-8701
800 #: 800--66-7-1846
e-mail: [email protected]
Home page: http://www.mpssociety.ca
Fabry Support & Information Group
108 NE 2nd St, P.O. Box 510, Concordia, MO 64020-0510
Concordia MO 64020-0510
Phone #: 660-463-1355
800 #: --
e-mail: [email protected]
Home page: http://www.fabry.org
Hide & Seek Foundation for Lysosomal Disease Research
4123 Lankershim Blvd.
North Hollywood CA 91602-2828
Phone #: 818-762-8621
800 #: N/A
e-mail: [email protected]
Home page: http://www.hideandseek.org
Instituto de Errores Innatos del Metabolismo
Carrera 7 No 43-82
S.A. Edificio 53 Lab. 305A None None
Phone #: 50 -1 3-208320
800 #: N/A
e-mail: [email protected]
Home page: http://www.javeriana.edu.co
International Center for Fabry Disease
Department of Human Genetics
New York NY 10029
Phone #: 212-659-6779
800 #: 800-322-7963
e-mail: [email protected]
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: [email protected]
Home page: http://www.netnet.net/mums/
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
Phone #: 914-428-7100
800 #: 888-663-4637
e-mail: [email protected]
Home page: http://www.marchofdimes.com
Morbus Fabry Homepage Germany
Web Site on the Internet
None None None
Phone #: --
800 #: --
e-mail: [email protected]
Home page: http://www.home.t-online.de/home/026232710-0001/fabrye.htm
National Fabry Disease Foundation (NFDF)
4301 Connecticut Ave. N.W.
Washington DC 20008-2369
Phone #: 919-732-9095
800 #: 800-651-9131
e-mail: [email protected]
Home page: http://www.TheNFDF.org
National Institute of Neurological Disorders and Stroke (NINDS)
31 Center Drive
Bethesda MD 20892-2540
Phone #: 301-496-5751
800 #: 800-352-9424
e-mail: [email protected]
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: [email protected]
Home page: http://www.mpssociety.org
National Tay-Sachs and Allied Diseases Association, Inc.
2001 Beacon Street
Brighton MA 02135
Phone #: 617-277-4463
800 #: 800-906-8723
e-mail: [email protected]
Home page: http://www.NTSAD.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html