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    Fabry Disease

    Important
    It is possible that the main title of the report Fabry Disease is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

    Synonyms

    • alpha-galactosidase A deficiency
    • Anderson-Fabry disease
    • angiokeratoma corporis diffusum
    • angiokeratoma diffuse
    • ceramide trihexosidase deficiency
    • GLA deficiency
    • hereditary dystopic lipidosis

    Disorder Subdivisions

    • classical
    • later-onset

    General Discussion

    Fabry disease is a rare genetic disorder of fat (lipid) metabolism characterized by a deficiency of the enzyme alpha-galactosidase A (previously known as ceramide trihexosidase). 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 compounds and intracellular structures. Alpha-galactosidase functions to remove the terminal galactose moieties from complex sugary-fat molecules termed glycosphingolipids. 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 specific sugary-fat material (termed globotriaosylceramide, GL-3 or Gb3) in various organs of the body, particularly in the blood vessels. Symptoms of classic Fabry disease typically include onset in childhood or adolescence, the appearance of clusters of rash-like discolorations on the skin (angiokeratomas), excruciating pain in the hands and feet, and abdominal pain, absent or markedly decreased sweating (anhidrosis or hypohidrosis), and specific changes in the cornea of the eye (corneal dystrophy) that do not affect vision. Later in the course of the disease, kidney failure, heart disease, and/or strokes cause life-threatening complications.

    Individuals with alpha-galactosidase A levels greater than 1% of normal have a somewhat milder or attenuated, later-onset subtype of the disease, and typically do not have the early-onset symptoms including the skin lesions, eye changes, decreased sweating, and pain in the extremities. They develop kidney, heart, or cerebrovascular (i.e., stroke) disease in adult life.

    Fabry disease, which is inherited as an X-linked trait, affects males and females. Males are more uniformly affected whereas females have variable affects and may be asymptomatic or as severely affected as males.

    Resources

    CLIMB (Children Living with Inherited Metabolic Diseases)
    Climb Building
    176 Nantwich Road
    Crewe, CW2 6BG
    United Kingdom
    Tel: 4408452412173
    Fax: 4408452412174
    Email: enquiries@climb.org.uk
    Internet: http://www.CLIMB.org.uk

    National Tay-Sachs and Allied Diseases Association, Inc.
    2001 Beacon Street
    204
    Brookline, MA 02146-4227
    USA
    Tel: (617)277-4463
    Fax: (617)277-0134
    Tel: (800)906-8723
    Email: info@ntsad.org
    Internet: http://www.NTSAD.org

    March of Dimes Birth Defects Foundation
    1275 Mamaroneck Avenue
    White Plains, NY 10605
    Tel: (914)997-4488
    Fax: (914)997-4763
    Tel: (888)663-4637
    Email: Askus@marchofdimes.com
    Internet: http://www.marchofdimes.com

    International Center for Fabry Disease
    Mount Sinai School of Medicine
    Fifth Avenue at 100th Street
    New York, NY 10029
    USA
    Tel: (212)659-6700
    Tel: (866)322-7963
    Email: fabry.disease@mssm.edu
    Internet: http://www.mssm.edu/research/programs/international-center-for-fabry-disease

    NIH/National Institute of Neurological Disorders and Stroke
    P.O. Box 5801
    Bethesda, MD 20824
    Tel: (301)496-5751
    Fax: (301)402-2186
    Tel: (800)352-9424
    TDD: (301)468-5981
    Internet: http://www.ninds.nih.gov/

    Canadian Society for Mucopolysaccharide and Related Diseases, Inc.
    PO Box 30034
    RPO Parkgate
    North Vancouver
    British Columbia, V7H 2Y8
    Canada
    Tel: 6049245130
    Fax: 6049245131
    Tel: 8006671846
    Email: info@mpssociety.ca
    Internet: http://www.mpssociety.ca

    Fabry Support & Information Group
    108 NE 2nd Street
    Suite C
    P.O. Box 510
    Concordia, MO 64020-0510
    USA
    Tel: (660)463-1355
    Fax: (660)463-1356
    Email: info@fabry.org
    Internet: http://www.fabry.org

    Genetic and Rare Diseases (GARD) Information Center
    PO Box 8126
    Gaithersburg, MD 20898-8126
    Tel: (301)251-4925
    Fax: (301)251-4911
    Tel: (888)205-2311
    TDD: (888)205-3223
    Internet: http://rarediseases.info.nih.gov/GARD/

    Instituto de Errores Innatos del Metabolismo
    Carrera 7 No 40 - 62
    Bogota,
    Colombia
    Tel: 5713208320
    Email: abarrera@javeriana.edu.co
    Internet: http://www.javeriana.edu.co/ieim/programas_ieim.htm

    Hide & Seek Foundation for Lysosomal Disease Research
    6475 East Pacific Coast Highway Suite 466
    Long Beach, CA 90803
    Tel: (877)621-1122
    Fax: (866)215-8850
    Email: info@hideandseek.org
    Internet: http://www.hideandseek.org

    National Fabry Disease Foundation
    4301 Connecticut Ave. N.W., Suite 404
    Washington, DC 20008-2369
    Fax: (800)651-9135
    Tel: (800)651-9131
    Email: info@fabrydisease.org
    Internet: http://www.fabrydisease.org/

    Proyecto Pide un Deseo México, i.a.p.
    Altadena #59-501 col. Napoles
    delegacion Benito Juarez
    03810 Mexico D.F.
    Tel: 55 5543-2447
    Fax: 55-5543-5450
    Email: prayecto.pdeundese.mexico@gmail.com
    Internet: http://www.pideundeseo.org

    For a Complete Report:

    This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

    The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

    It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

    This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

    For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

    Last Updated: 10/24/2012
    Copyright 1986, 1994, 1995, 1997, 1998, 1999, 2001, 2002, 2003, 2004, 2007, 2009, 2012 National Organization for Rare Disorders, Inc.

    WebMD Medical Reference from the National Organization for Rare Disorders

    Last Updated: May 28, 2015
    This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

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