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Gaucher disease

Alternative Names: Glucocerebrosidase Deficiency; Glucosylceramidase Deficiency Treatment: Enzyme replacement therapy is available. A bone marrow transplant may be required in severe cases. Support Groups: For more information contact: National Gaucher Foundation: www.gaucherdisease.org Chicago Center for Jewish Genetic Disorders: www.jewishgeneticscenter.org Gauchers Association: www.gaucher.org.uk Expectations (prognosis): Text Continues Below Prognosis depends on the subtype of the disease. The infantile form of Gaucher disease may lead to early death. Most affected children die before the age of 5 years. With the availability of synthetic enzyme, most patients with the adult-chronic form can look forward to normal or near-normal life expectancy. Complications: seizures anemia thrombocytopenia bone infarctions Calling your health care provider: Call your health care provider or a Comprehensive Gaucher Center if you have a family history of Gaucher disease.

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