NINDS Gaucher's Disease Information Page: NINDS


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Article title: NINDS Gaucher's Disease Information Page: NINDS
Conditions: Gaucher's Disease
What is Gaucher's Disease?
Gaucherís disease is an inherited metabolic disorder in which harmful quantities of a fatty substance called glucocerebroside accumulate in the spleen, liver, lungs, bone marrow, and, in rare cases, the brain. Three clinical forms (phenotypes) of Gaucherís disease are commonly recognized. The first category, called type 1, is by far the most common. Patients in this group usually bruise easily and experience fatigue due to anemia, low blood platelets, enlargement of the liver and spleen, weakening of the skeleton, and in some instances, lung and kidney impairment. There are no signs of brain involvement. The onset of clinical manifestations may be early in life, or delayed until adulthood. The second group is classified as type 2. In this form, liver and spleen enlargement are apparent by 3 months of age. In addition, there is extensive and progressive brain damage. These patients usually die by 2 years of age. In the third category, called type 3, liver and spleen enlargement is variable, and signs of brain involvement such as seizures gradually become apparent. All of these patients exhibit a deficiency of an enzyme called glucocerebrosidase that catalyzes the first step in the biodegradation of glucocerebroside. Except for the brain, glucocerebroside arises mainly from the biodegradation of old red and white blood cells. In the brain, glucocerebroside arises from the turnover of complex lipids during brain development and the formation of the myelin sheath of nerves.

Is there any treatment?
Highly effective enzyme replacement therapy is available for patients with type 1 Gaucherís disease. This therapy decreases liver and spleen size, reduces skeletal abnormalities, and successfully reverses other manifestations of the disorder including abnormal blood counts. There is currently no effective treatment for severe brain damage that may occur in patients with types 2 and 3.

What is the prognosis?
There is no permanent cure for Gaucherís. Enzyme replacement therapy is very beneficial for type 1 patients and most of the type 3 patients with this condition.

What research is being done?
The NINDS is currently conducting a study to examine the skeletal response to enzyme replacement therapy in patients with type 1 whose spleens have been removed and its effect in patients with type 3 Gaucherís disease with severe seizures.

 Organizations

National Gaucher Foundation
5410 Edson Lane
Suite 260
Rockville, MD 20852-3130
ngf@gaucherdisease.org
http://www.gaucherdisease.org/
Tel: 301-816-1515 800-GAUCHER (428-2437)
Fax: 301-816-1516

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

National Foundation for Jewish Genetic Diseases
250 Park Avenue
c/o Suite 1000
New York, NY 10177
http://www.nfjgd.org/
Tel: 212-371-1030

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



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