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Gaucher's Disease Reviewed 02-25-2003 Get Web page suited for printing Email this to a friend or colleague Studies with patients Table of Contents (click to jump to sections) What is Gaucher's Disease?Is there any treatment? What is the prognosis? What research is being done? Organizations Related NINDS Publications and Information 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, in rare cases, the brain. Three clinical forms (phenotypes) of Gaucher 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? What is the prognosis? What research is being done? National Gaucher Foundation
Children's Gaucher Research Fund
National Organization for Rare Disorders (NORD)
National Tay-Sachs and Allied Diseases Association Related NINDS Publications and Information
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