Gaucher disease is the most common of the inherited metabolic disorder known as lipid storage diseases. Lipids are fatty materials that include oils, fatty acids, waxes, and steroids (such as cholesterol and estrogen). Gaucher disease is caused by a deficiency of the enzyme glucocerebrosidase. Fatty materials can accumulate in the spleen, liver, lungs, bone marrow, and brain. Symptoms may begin in early life or adulthood and include skeletal disorders and bone lesions that may cause pain and fractures, enlarged spleen and liver, liver malfunction, anemia, and yellow spots in the eyes. There are three common clinical subtypes of Gaucher disease. The first category, called type 1 (or nonneuropathic), is 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. The brain is not affected and many individuals with a mild form of the disorder may not show any symptoms. In type 2 Gaucher disease (acute infantile neuropathic Gaucher disease), symptoms including seizures, spasticity limb rigidity are apparent by 3 months of age.Infants may have extensive and progressive brain brain damage. Individuals usually die before 2 years of age. In the third category, called type 3 (or chronic neuropathic Gaucher disease), 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, seizures, cognitive deficit, poor coordination, respiratory problems, and blood disorders.
Enzyme replacement therapy is available for most people with types 1 and 3 Gaucher disease. Given intravenously every two weeks, this therapy decreases liver and spleen size, reduces skeletal abnormalities, and reverses other symptoms of the disorder. The U.S. Food and Drug Administration has approved taliglucerase alfa for long-term enzyme replacement in people with type 1 Gaucher disease. 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 the procedure carries a high risk and is rarely performed. Surgery to remove the spleen may be required on rare occasions, and blood transfusions may benefit some anemic individuals. Other individuals may require joint replacement surgery to improve mobility and quality of life. There is no effective treatment for severe brain damage that may occur in persons with types 2 and 3 Gaucher disease.
Enzyme replacement therapy is very beneficial for type 1 and most type 3 individuals with this condition.
The mission of the National Institute of Neurological Disorders and Stroke (NINDS), a part of the National Institutes of Health), is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS supports research to find ways to treat and prevent lipid storage disorders such as Gaucher disease. For example, researchers hope to identify biomarkers (signs that may indicate risk of a disease and improve diagnosis) for Gaucher disease and other lipid storage diseases; and identify genetic, biochemical, and clinical factors that are associated with disease severity in individuals with Gaucher disease.
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National Gaucher Foundation, Inc.
Funds research for a cure and alternative treatments for Gaucher Disease; provides education, financial, support and mentor programs and advocates for legislation affecting the Gaucher and rare disease community.
61 General Early Drive
Harpers Ferry, WV 25425
Tel: Harpers Ferry
Children's Gaucher Research Fund
Grassroots non-profit organization that supports research efforts on Types 2 and 3 Gaucher disease.
P.O. Box 2123
Granite Bay, CA 95746-2123
Tel: Granite Bay
National Organization for Rare Disorders (NORD)
Federation of voluntary health organizations dedicated to helping people with rare "orphan" diseases and assisting the organizations that serve them. Committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and service.
55 Kenosia Avenue
Danbury, CT 06810
National Tay-Sachs and Allied Diseases Association
The mission of the National Tay-Sachs & Allied Diseases Association is to lead the fight to treat and cure Tay-Sachs, Canavan and related genetic diseases and to support affected families and individuals in leading fuller lives.
2001 Beacon Street
Boston, MA 02135