Gaucher disease

noun

Gau·cher disease | \ (ˌ)gō-ˈshā-

variants: or Gaucher's disease \ (ˌ)gō-ˈshāz-

How to pronounce Gaucher's disease (audio)

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

Note: 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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The first known use of Gaucher disease was in 1902

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Gaucher disease

noun

Gau·cher disease | \ ˌgō-ˈshā-\

variants: or 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

Note: 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