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Gaucher's disease is caused by an accumulation of glucocerebrosides (glucosylceramide) in macrophages. The specific enzyme deficiency is glucocerebrosidase (acid beta-glucosidase, lysosomal enzyme). The inheritance pattern is autosomal recessive.
Erlenmeyer flask deformities of the metaphyses cause bone remodeling complications.
The clinical manifestations are pancytopenia, thrombocytopenia, and specific bone conditions such as osteonecrosis, bone crises, and fractures. Patients often have easy bruising and fatigability.
Patients with Gaucher's disease are treated by replacement of the deficient enzyme.
Other defects from the set of disorders called mucopolysaccharidoses include:
Hurler syndrome - dermatan sulfate and heparin sulfate
- Hunter syndrome - heparin and dermatan sulfate
- Sanfilippo syndrome - heparin sulfate
- Morquio syndrome - keratin sulfate
- Maroteaux-Lamy syndrome - dermatan sulfate
- McCarthy EF, Frassica FJ. Genetic diseases of bones and joints. In: Pathology of Bone and Joint Disorders. Philadelphia, Pa: Saunders; 1998:54-55.
- Vigorita VJ. Osteonecrosis, Gaucher's disease. In: Vigorita VJ, ed. Orthopaedic Pathology. Philadelphia, Pa: Lippincott Williams and Wilkins; 1999:503-505.
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