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.
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
Greg Johnson, The Los Angeles TimesGaucher's disease is caused by a recessive mutation in the enzyme that cleaves glucose from the lipid portion of sphingolipids. Gina Kolata, Science
Gina Kolata, Science