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What is Gaucher's Disease?
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. Symptoms may begin early in life or in adulthood. People in this group usually bruise easily due to low blood platelets and experience fatigue due to anemia 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. Individuals have extensive and progressive brain damage and usually die before 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. Major symptoms also include skeletal irregularities, eye movement disorders, and blood disorders. 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.

Is there any treatment?
Highly effective enzyme replacement therapy is available for most people with **types 1** and **3** Gaucher disease. This therapy decreases liver and spleen size, reduces skeletal anomalies, and successfully reverses other symptoms of the disorder, including abnormal blood counts. Bone marrow transplantation (a procedure to replace damaged or destroyed blood-forming cells) can reverse the non-neurological effects of **type 1** Gaucher disease, but it carries a high mortality rate due to bad donor matches. This procedure has been replaced by enzyme replacement therapy. There is no effective treatment for severe brain damage that may occur in persons with **types 2** and **3** Gaucher disease

What research is being done?
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.

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 || 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 Boston, MA 02135 info@ntsad.org [|http://www.ntsad.org] Tel: 800-90-NTSAD (906-8723) Fax: 617-277-0134 ||
 * Organizations **
 * **[|National Gaucher Foundation]**
 * **[|National Organization for Rare Disorders (NORD)]**

The National Gaucher Foundation (NGF) is the only independent, non-profit organization of its kind serving the Gaucher community. The NGF, a non-profit organization established in 1984, has funded millions of dollars toward the cause, treatments and cure for Gaucher Disease. We are an objective, independent voice of the Gaucher community, dedicated to providing leadership, outreach and innovative thinking. We offer a wide range of programs and resources to meet the ever-increasing needs of individuals and families affected by this disease.


 * Type 1 Gaucher disease** is the most common form of this condition. Type 1 is also called non-neuronopathic Gaucher disease because the brain and spinal cord (the central nervous system) are usually not affected.
 * Types 2 and 3 Gaucher disease** are known as neuronopathic forms of the disorder because they are characterized by problems that affect the [|central nervous system].

The most severe type of Gaucher disease is called the perinatal lethal form. This condition causes severe or life-threatening complications starting before birth or in infancy. Features of the perinatal lethal form can include extensive swelling caused by fluid accumulation before birth (hydrops fetalis); dry, scaly skin (ichthyosis) or other skin abnormalities; hepatosplenomegaly; distinctive facial features; and serious neurological problems. As its name indicates, most infants with the perinatal lethal form of Gaucher disease survive for only a few days after birth.