Gaucher disease

noun

Gau·​cher disease (ˌ)gō-ˈshā- 

variants or Gaucher's disease

(ˌ)gō-ˈshāz- 

: 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.

Examples of Gaucher disease in a Sentence

Recent Examples on the Web

In addition to ulcerative colitis, some examples of other health conditions that occur more commonly in the Ashkenazi Jewish population include Tay-Sachs disease, Gaucher disease, and cystic fibrosis. —Jill Seladi-Schulman, SELF, 15 Feb. 2022

Those can include diseases like neurofibromatosis and Gaucher disease. —Korin Miller, Health.com, 24 Sep. 2021

Parkinson’s disease, a type of Gaucher disease, several hereditary blood disorders, and alpha-1 antitrypsin deficiency. —Kate Sheridan, STAT, 9 Sep. 2020

Dor Yeshorim contributed to the discovery or confirmation of the genes for Canavan disease; Gaucher disease, which attacks the spleen and liver, causing pain and fatigue; and Fanconi’s anemia, a failure of the bone marrow. —Jeff Wheelwright, Discover Magazine, 20 May 2012

Word History

Etymology

Philippe C. E. Gaucher †1918 French physician

First Known Use

1902, in the meaning defined above

Medical Definition

Gaucher disease

noun

Gau·​cher disease ˌgō-ˈshā- 

variants or Gaucher's 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

Gaucher's disease is caused by a recessive mutation in the enzyme that cleaves glucose from the lipid portion of sphingolipids.

—Gina Kolata, Science