Gaucher's disease

Gaucher's disease

[goh-sheyz]
noun Pathology.
a rare inherited disorder of fat metabolism that causes spleen and liver enlargement, abnormal fragility and pain of the bones, and progressive neurologic disturbances, leading to early death.

Origin:
after Philippe C. Ernest Gaucher (1854–1918), French physician, who described it

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American Heritage
Medical Dictionary

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.

The American Heritage® Stedman's Medical Dictionary
Copyright © 2002, 2001, 1995 by Houghton Mifflin Company. Published by Houghton Mifflin Company.
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Encyclopedia Britannica
Encyclopedia

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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Encyclopedia Britannica, 2008. Encyclopedia Britannica Online.
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