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.
alpha-galactosidase A deficiency
angiokeratoma corporis diffusum
ceramide trihexosidase deficiency
hereditary dystopic lipidosis
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.
CLIMB (Children Living with Inherited Metabolic Diseases) Climb Building 176 Nantwich Road Crewe, Intl CW2 6BG United Kingdom Tel: (+44) (0)845 241 2173 Fax: (+44) (0)845 241 2174 Tel: (+44) (0)800 652 3181 Email: email@example.com 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: firstname.lastname@example.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: email@example.com 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, Intl V7H 2Y8 Canada Tel: (604) 924-5130 Fax: (604) 924-5131 Tel: 1-800-667-1846 Email: firstname.lastname@example.org 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: email@example.com Internet: http://www.fabry.org
MUMS National Parent-to-Parent Network 150 Custer Court Green Bay, WI 54301-1243 USA Email: firstname.lastname@example.org Internet: http://www.netnet.net/mums/
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, Columbia Tel: (571) 3208320 Email: email@example.com 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: firstname.lastname@example.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@TheNFDF.org Internet: http://www.TheNFDF.org
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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
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