National Organization for Rare Disorders, Inc.
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
- Anderson-Fabry disease
- angiokeratoma corporis diffusum
- angiokeratoma diffuse
- ceramide trihexosidase deficiency
- GLA 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, CW2 6BG
- United Kingdom
- Tel: 4408452412173
- Fax: 4408452412174
- Email: firstname.lastname@example.org
- Website: http://www.CLIMB.org.uk
Canadian Society for Mucopolysaccharide and Related Diseases, Inc.
- PO Box 30034
- RPO Parkgate
- British Columbia, V7H 2Y8
- Tel: 6049245130
- Fax: 6049245131
- Tel: 8006671846
- Email: email@example.com
- Website: http://www.mpssociety.ca
Fabry Support & Information Group
- 108 NE 2nd Street
- Suite C
- Concordia, MO 64020-0510
- Tel: (660)463-1355
- Fax: (660)463-1356
- Email: firstname.lastname@example.org
- Website: 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
- Website: http://rarediseases.info.nih.gov/GARD/
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: email@example.com
- Website: http://www.hideandseek.org
Instituto de Errores Innatos del Metabolismo
- Carrera 7 No 40 - 62
- Tel: 5713208320
- Email: firstname.lastname@example.org
- Website: http://www.javeriana.edu.co/ieim/programas_ieim.htm
International Center for Fabry Disease
- Mount Sinai School of Medicine
- Fifth Avenue at 100th Street
- New York, NY 10029
- Tel: (212)659-6700
- Tel: (866)322-7963
- Email: email@example.com
- Website: http://www.mssm.edu/research/programs/international-center-for-fabry-disease
March of Dimes Birth Defects Foundation
- 1275 Mamaroneck Avenue
- White Plains, NY 10605
- Tel: (914)997-4488
- Fax: (914)997-4763
- Website: http://www.marchofdimes.com
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
- Website: http://www.ninds.nih.gov/
National Fabry Disease Foundation
- 4301 Connecticut Ave. N.W., Suite 404
- Washington, DC 20008-2369
- Fax: (800)651-9135
- Tel: (800)651-9131
- Email: firstname.lastname@example.org
- Website: http://www.fabrydisease.org/
National Tay-Sachs and Allied Diseases Association, Inc.
- 2001 Beacon Street
- Brookline, MA 02146-4227
- Tel: (617)277-4463
- Fax: (617)277-0134
- Tel: (800)906-8723
- Email: email@example.com
- Website: http://www.NTSAD.org
Proyecto Pide un Deseo México, i.a.p.
- Altadena #59-501
- Benito Juárez, 03810
- México, D.F.
- Tel: +52 55 5543-2447
- Fax: 55-5543-5450
- Email: firstname.lastname@example.org
- Website: 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 email@example.com
Last Updated: 1/14/1970
Copyright 2012 National Organization for Rare Disorders, Inc.
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