gaucher's disease

Main Entry: Gau·cher's disease
Pronunciation: "gO-'shAz-
Function: noun
: a rare hereditary disorder of lipid metabolism that is caused by an enzymedeficiency 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 ofglucocerebroside in the cells of the reticuloendothelial system —compare NIEMANN-PICK DISEASE SPIELMEYER-VOGT DISEASE TAY-SACHSDISEASE
Gauácher /gO-shA/ Philippe Charles Ernest(1854–1918), French physician. Gaucher specialized in skin diseases and syphilology. He describedthe disease now known as Gaucher's disease in 1882.

Gaucher's disease n.
A rare familial disorder of fat metabolism due to a glucocerebrosidase deficiency and characterized by enlargement of the liver and spleen, lymphadenopathy, and bone destruction. Also called cerebroside lipidosis, cerebrosidosis.

Gaucher's disease

rare inherited metabolic disorder characterized by anemia, mental and neurologic impairment, yellowish pigmentation of the skin, enlargement of the spleen, and bone deterioration resulting in pathological fractures. Gaucher disease was initially described in 1882 by French physician Philippe Charles Ernest Gaucher. Gaucher disease is inherited as an autosomal recessive trait and is caused by one or more mutations in a gene called acid beta-glucosidase (GBA). These mutations result in defects in the synthesis of an enzyme called glucocerebrosidase, leading to the accumulation of lipids called glucocerebrosides in Gaucher cells. Gaucher cells are large, wrinkled-appearing cells that store glycolipids and are usually found in the bone marrow and the spleen.

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