Fabry Disease - Quest Diagnostics Patient Health Library

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

None

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. Low levels or inactivity of the alpha-galactosidase A enzyme leads 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 blood vessels and the eyes. Symptoms of Fabry disease may include the appearance of clusters of wart-like discolorations on the skin (angiokeratomas), abdominal pain, and/or visual impairment. Later in the course of the disease, kidney failure, heart irregularities, and/or progressive neurological abnormalities may cause serious complications. Fabry disease, which is inherited as an X-linked recessive trait, primarily affects males. A milder form of the disease has been identified in females.
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Resources

CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
176 Nantwich Road
Crewe, Intl CW2 6BG
United Kingdom
Tel: +44 870 7700 325
Fax: +44 870 7700 327
Email: info@climb.org.uk
Internet: http://www.CLIMB.org.uk

National Tay-Sachs and Allied Diseases Association, Inc.
2001 Beacon Street
Suite 204
Brighton, MA 02135
USA
Tel: 6172774463
Fax: 6172770134
Tel: 8009068723
Email: info@ntsad.org
Internet: http://www.NTSAD.org

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)428-7100
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com

National MPS (Mucopolysaccharidoses/Mucolipidoses) Society, Inc.
PO Box 736
Bangor, ME 04402-0736
Tel: (207)947-1445
Fax: (207)990-3074
Email: info@mpssociety.org
Internet: http://www.mpssociety.org

International Center for Fabry Disease
Department of Human Genetics
Mt. Sinai School of Medicine
Box 1498
New York, NY 10029
USA
Tel: 2126596779
Fax: 2126596780
Tel: 8003227963
Email: fabry.disease@mssm.edu
Internet: http://www.mssm.edu/genetics/fabry

National Institute of Neurological Disorders and Stroke (NINDS)
31 Center Drive
8A07
Bethesda, MD 20892-2540
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
Email: braininfo@ninds.nih.gov
Internet: http://www.ninds.nih.gov/

Canadian Society for Mucopolysaccharide and Related Diseases, Inc.
PO Box 64714
Unionville
Ontario, Intl L3R OM9
Canada
Tel: 905-479-8701
Fax: 905-479-8701
Tel: 800-667-1846
Email: lori.mps@rogers.com
Internet: http://www.mpssociety.ca

Fabry Support & Information Group
108 NE 2nd St, P.O. Box 510, Concordia, MO 64020-0510
P.O. Box 510
Concordia, MO 64020-0510
USA
Tel: 6604631355
Fax: 6604631356
Email: info@fabry.org
Internet: http://www.fabry.org

Morbus Fabry Homepage Germany
Web Site on the Internet

Email: beck@pollux.kinder.klink.uni-mainz.de
Internet: http://www.home.t-online.de/home/026232710-0001/fabrye.htm

Instituto de Errores Innatos del Metabolismo
Carrera 7 No 43-82
Bogota, Columbia
S.A. Edificio 53 Lab. 305A,
Tel: (50 )1 3-208320
Fax: (51 )1 3-384548
Email: abarrera@javeriana.edu.co
Internet: http://www.javeriana.edu.co

Hide & Seek Foundation for Lysosomal Disease Research
4123 Lankershim Blvd.
Suite 302
North Hollywood, CA 91602-2828
Tel: (818)762-8621
Fax: (818)762-2502
Email: info@hideandseek.org
Internet: http://www.hideandseek.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

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: 8/17/2007
Copyright 1986, 1994, 1995, 1997, 1998, 1999, 2001, 2002, 2003, 2004, 2007 National Organization for Rare Disorders, Inc.

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