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NINDS Disorders is an index of neurological conditions provided by the National Institute of Neurological Disorders and Stroke. This valuable tool offers detailed descriptions, facts on treatment and prognosis, and patient organization contact information for over 500 identified neurological disorders.

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Fabry Disease

Fabry disease is caused by the lack of or faulty enzyme needed to metabolize lipids, fat-like substances that include oils, waxes, and fatty acids.  The disease is also called alpha-galactosidase-A deficiency.  A mutation in the gene that controls this enzyme causes insufficient breakdown of lipids, which build up to harmful levels in the eyes, kidneys, autonomic nervous system, and cardiovascular system.  Fabry disease is one of several lipid storage disorders and the only X-linked lipid storage disease.  Since the gene that is altered is carried on a mother’s X chromosome, her sons have a 50 percent chance of inheriting the disorder and her daughters have a 50 percent chance of being a carrier.  A milder form is common in females, and occasionally some affected females may have severe manifestations similar to males with the disorder.  Symptoms usually begin during childhood or adolescence and include burning sensations in the hands that gets worse with exercise and hot weather and small, non-cancerous, raised reddish-purple blemishes on the skin.  Some boys will also have eye manifestations, especially cloudiness of the cornea.  Lipid storage may lead to impaired arterial circulation and increased risk of heart attack or stroke.  The heart may also become enlarged and the kidneys may become progressively involved.  Other signs include decreased sweating, fever, and gastrointestinal difficulties.

Treatment

Enzyme replacement therapy has been approved by the U.S. Food and Drug Administration for the treatment of Fabry disease.  Enzyme replacement therapy can reduce lipid storage, ease pain, and improve organ function.  The pain that accompanies the disease may be treated with anticonvulsants such as phenytoin and carbamazepine.  Gastrointestinal hyperactivity may be treated with metoclopramide.  Some individuals may require dialysis or kidney transplantation.

Prognosis

Patients with Fabry disease often die prematurely of complications from strokes, heart disease, or renal failure.

Research

The National Institute of Neurological Disorders and Stroke (NINDS), a component of the National Institutes of Health, supports research to find ways to treat and prevent lipid storage diseases such as Fabry disease.

View a list of studies currently seeking patients.

View more studies on this condition.

Organizations

National Organization for Rare Disorders (NORD)

Federation of voluntary health organizations dedicated to helping people with rare "orphan" diseases and assisting the organizations that serve them. Committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and service.

55 Kenosia Avenue
Danbury, CT 06810
Tel: 203-744-0100 Voice Mail 800-999-NORD (6673)
Fax: 203-798-2291

National Fabry Disease Foundation

4301 Connecticut Avenue, NW
Suite 404
Washington, DC 20008-2369
Tel: 800-651-9131
Fax: 800-651-9135

Fabry Support & Information Group

Non-profit support and information group that works to raise awareness of Fabry disease and its symptoms. Offers a variety of self-help, educational, and advocacy initiatives and programs in an effort to enhance identification, diagnosis, and treatment of Fabry disease.

108 NE 2nd Street, Ste. C
P.O. Box 510
Concordia, MO 64020-0510
Tel: 660-463-1355
Fax: 660-463-1356

National Tay-Sachs and Allied Diseases Association

The mission of the National Tay-Sachs & Allied Diseases Association is to lead the fight to treat and cure Tay-Sachs, Canavan and related genetic diseases and to support affected families and individuals in leading fuller lives.

2001 Beacon Street
Suite 204
Boston, MA 02135
Tel: 800-90-NTSAD (906-8723)
Fax: 617-277-0134

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