Gau·cher's disease .gō-'shāz- n a rare hereditary disorder of lipid metabolism that is caused by an enzyme deficiency of glucocerebrosidase, that is characterized by enormous enlargement of the spleen, pigmentation of the skin, and bone lesions, and that is marked by the presence of large amounts of glucocerebroside in the cells of the reticuloendothelial system compare NIEMANN-PICK DISEASE, TAY-SACHS DISEASE
Gau·cher gō-shā Philippe Charles Ernest (1854-1918)
French physician. Gaucher specialized in skin diseases and syphilology. He described the disease now known as Gaucher's disease in 1882.
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a genetically determined (autosomal recessive) disease resulting from the deposition of glucocerebrosides (see cerebroside) in the brain and other tissues (especially bone). It causes mental retardation, abnormal limb posture and spasticity, and difficulty with swallowing. Carrier detection and prenatal diagnosis are possible; enzyme replacement therapy may be used in treatment.
P. C. E. Gaucher (1854-1918), French physician
Medical dictionary. 2011.