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gaucher disease

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Gau⋅cher'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
Dictionary.com Unabridged
Based on the Random House Dictionary, © Random House, Inc. 2009.
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Medical Dictionary

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.
Merriam-Webster's Medical Dictionary, © 2002 Merriam-Webster, Inc.
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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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