Gaucher 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 sometimes in the brain. There are three types of Gaucher disease. 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 and low blood platelets. They also have an enlarged liver and spleen, skeletal disorders, and, in some instances, lung and kidney impairment. There are no signs of brain involvement. Symptoms can appear at any age. In type 2 Gaucher disease, liver and spleen enlargement are apparent by 3 months of age. Patients have extensive and progressive brain damage and 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 Gaucher patients exhibit a deficiency of an enzyme called glucocerebrosidase that is involved in the breakdown and recycling of glucocerebroside. The buildup of this fatty material within cells prevents the cells and organs from functioning properly. Gaucher disease is one of several lipid storage diseases.
Enzyme replacement therapy is very beneficial for type 1 patients and most type 3 patients with this condition.
The National Institute of Neurological Disorders and Stroke (NINDS), a part of the National Institutes of Health), supports
research to find ways to treat and prevent lipid storage disorders. This research includes clinical studies by the NINDS Developmental
and Metabolic Neurology Branch: (http://www.ninds.nih.gov/find_people/labs/61.htm).
National Gaucher Foundation 2227 Idlewood Road, Suite 12 Tucker, GA 30084 ngf@gaucherdisease.org http://www.gaucherdisease.org Tel: 800-504-3189 Fax: 770-934-2911 |
Children's Gaucher Research Fund P.O. Box 2123 Granite Bay, CA 95746-2123 research@childrensgaucher.org http://www.childrensgaucher.org Tel: 916-797-3700 Fax: 916-797-3707 |
National Organization for Rare Disorders (NORD) P.O. Box 1968 (55 Kenosia Avenue) Danbury, CT 06813-1968 orphan@rarediseases.org http://www.rarediseases.org Tel: 203-744-0100 Voice Mail 800-999-NORD (6673) Fax: 203-798-2291 |
National Tay-Sachs and Allied Diseases Association 2001 Beacon Street Suite 204 Brighton, MA 02135 info@ntsad.org http://www.ntsad.org Tel: 617-277-4463 800-90-NTSAD (906-8723) Fax: 617-277-0134 |
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National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892
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Last updated February 07, 2008