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NINDS Fabry's Disease Information Page Reviewed 7-30-2004 Get Web page suited for printing Email this to a friend or colleague Table of Contents (click to jump to sections) What is Fabry's Disease?Is there any treatment? What is the prognosis? What research is being done? Organizations What is Fabry's Disease? Fabry disease is a lipid storage disorder caused by the deficiency of an enzyme involved in the biodegradation of fats. The enzyme is known as ceramidetrihexosidase, also called alpha-galactosidase A. A mutation in the gene that controls this enzyme causes insufficient breakdown of lipids, which then build up in the body and cause a number of symptoms. The gene that is altered in this disorder is on the X-chromosome. If a woman has the mutated gene, her sons have a 50 percent chance of having the condition, and her daughters have a 50 percent chance of being a carrier. Symptoms of the disorder include burning sensations in the hands and feet that get worse with exercise and hot weather, and small, raised, reddish-purple blemishes on the skin. Some boys will also have eye manifestations, especially cloudiness of the cornea. As they grow older, they may have impaired arterial circulation leading to early heart attacks and strokes. The kidneys may become progressively involved, and require kidney transplantation or dialysis. A number of individuals have gastrointestinal difficulties characterized by frequent bowel movements shortly after eating. Some female carriers may also exhibit symptoms of the disorder. Is there any treatment? What is the prognosis? What research is being done? Fabry Support & Information Group
National Institute of Diabetes and Digestive
and Kidney Diseases (NIDDK)
National Tay-Sachs and Allied Diseases Association
National Organization for Rare Disorders (NORD)
NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history. All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated. Provided by: | |||||
National Institute of Neurological Disorders and Stroke
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