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Glucocerebrosidase deficiency; Glucosylceramidase deficiency
Enzyme replacement therapy is available. A bone marrow transplant may be needed in severe cases.
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How well a person does depends on the subtype of the disease. The infantile form of Gaucher disease may lead to early death. Most affected children die before age 5.
Adults with the type 1 form of the disease can expect normal life expectancy with enzyme replacement therapy.
Stanley CA, Bennett MJ. Defects of metabolism in lipids. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 86.
Kumar V, Abbas AK, Fausto N. Robbins and Cotran Pathologic Basis of Disease. 7th ed. St. Louis, Mo: WB Saunders; 2005:163-165.
Sidransky E, Lamarca ME, Ginns EI. Therapy for Gaucher disease: Don't stop thinking about tomorrow. Mol Genet Metab. 2007 Feb;90(2):122-5. Epub 2006 Nov 3.
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