Diseases & Conditions


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