Gaucher disease
noun
Gau·cher disease
(ˌ)gō-ˈshā- 
variants
or Gaucher's 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.
Examples of Gaucher disease in a Sentence
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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
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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
Cite this Entry
“Gaucher disease.” Merriam-Webster.com Dictionary, Merriam-Webster, https://www.merriam-webster.com/dictionary/Gaucher%20disease. Accessed 30 Oct. 2025.
Copy CitationMedical 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, ScienceLove words? Need even more definitions?
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