Articles » NINDS Fabry's Disease Information Page: NINDS

NINDS Fabry's Disease Information Page: NINDS

Article title: NINDS Fabry's Disease Information Page: NINDS

Conditions: Fabry's Disease

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What is Fabry's Disease?
Fabry's disease is a fat storage disorder caused by a deficiency of an enzyme involved in the biodegradation of lipids. The gene that is altered in this disorder is on the X-chromosome, so only the mother needs to be a carrier to produce an affected child. Her sons have a 50 percent chance of having the condition, and her daughters have a 50 percent chance of being a carrier. Some of the female carriers exhibit signs of the condition, especially cloudiness of the cornea. In addition to the eye manifestations, males characteristically have burning sensations in their hands and feet that is worse with exercise and hot weather. Most of the males have small, raised, reddish-purple blemishes on their skin. As they grow older, they may have impaired arterial circulation leading to early heart attacks and strokes. The kidneys become progressively involved, and many patients have required kidney transplantation or dialysis. A number of patients have gastrointestinal difficulties characterized by frequent bowel movements shortly after eating. This disorder is due to a deficiency of a lipid breakdown enzyme known as ceramidetrihexosidase, also called alpha-galactosidase A. Its function is to cleave to a molecule of galactose from a lipid that arises primarily from old red blood cells.

Is there any treatment?
The pain in the hands and feet usually responds to medications such as Tegretol (carbamazepine) and dilantin. Gastrointestinal hyperactivity may be treated with metoclopramide or Lipisorb® (a nutritional supplement). Recent experiments indicate that enzyme replacement is effective therapy for patients with this disorder.

What is the prognosis?
Patients with Fabry's disease usually survive into adulthood, but they are at risk for strokes, heart attacks, and kidney damage. It is anticipated that enzyme replacement and eventually gene therapy will eliminate these difficulties.

What research is being done?
NINDS supports research to find ways to treat and prevent lipid storage disorders such as Fabry's disease.

 Organizations

Association for Neuro-Metabolic Disorders
c/o Cheryl Volk
5223 Brookfield Lane
Sylvania, OH 43560
VOLK4OLKS@aol.com
Tel: 419-885-1497

National Organization for Rare Disorders (NORD)
P.O. Box 8923
(100 Route 37)
New Fairfield, CT 06812-8923
orphan@rarediseases.org
http://www.rarediseases.org/
Tel: 203-746-6518 800-999-NORD (6673)
Fax: 203-746-6481

National Tay-Sachs and Allied Diseases Association
2001 Beacon Street
Suite 204
Boston, MA 02135
NTSAD-boston@worldnet.att.net
http://www.ntsad.org/
Tel: 617-277-4463 800-90-NTSAD (906-8723)
Fax: 617-277-0134

This fact sheet is in the public domain. You may copy it.Provided by:
The National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892



 » Next page: NINDS Fahr's Syndrome Information Page: NINDS

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