Definition of Gaucher disease
: a rare hereditary disorder of lipid metabolism caused by an enzyme deficiency and characterized by enlargement of the spleen and liver, bone lesions, and sometimes neurological impairment ◆Gaucher disease is inherited as an autosomal recessive trait requiring that both parents pass on a copy of the defective gene on a chromosome other than a sex chromosome.
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Origin and Etymology of gaucher disease
Philippe C. E. Gaucher †1918 French physician
Medical Dictionary
Gaucher disease
Gaucher's disease
Medical Definition of Gaucher disease
: a rare hereditary disorder of lipid metabolism that is caused by an enzyme deficiency of glucocerebrosidase, that is characterized by extreme 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 mononuclear phagocyte system ◆Gaucher disease is inherited as an autosomal recessive trait requiring that both parents pass on a copy of the defective gene on a chromosome other than a sex chromosome. In the U.S., Gaucher disease is most common among descendants of Eastern European Jews, but also appears in the non-Jewish population.—Greg Johnson, The Los Angeles Times, 3 Dec. 1992 Gaucher's disease is caused by a recessive mutation in the enzyme that cleaves glucose from the lipid portion of sphingolipids.—Gina Kolata, Science, 13 Mar. 1987
Biographical Note for gaucher disease
Gaucher
\gō-shā\, Philippe Charles Ernest
(1854–1918), French physician. Gaucher specialized in skin diseases and syphilology. He described the disease now known as Gaucher disease in 1882.
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