Fabry Disease

Content provided by National Organization for Rare Disorders

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:   5/1/2006

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Last updated:	May 01, 2006