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This buildup causes damage and dysfunction of tissues and organs. It is an autosomal recessive inborn error of metabolism characterized by the toxic accumulation of glucocerebroside lipids within multiple organs. Gaucher's disease or gaucher disease (/ ɡoʊˈʃeɪ /) (gd) is a genetic disorder in which glucocerebroside (a sphingolipid, also known as glucosylceramide) accumulates in cells and certain organs.
The sphingolipids weaken bones and enlarge your organs, so they can’t work as they should. Gaucher disease, the most prevalent lysosomal storage disorder, presents with an elevated incidence among ashkenazi jews Gaucher disease refers to a group of inherited metabolic diseases in which harmful amounts of fatty materials (lipids) accumulate in various cells and tissues in the body (lipid storage disorder).
Gaucher disease is a rare genetic disorder passed down from parents to children (inherited)
When you have gaucher disease, you are missing an enzyme that breaks down fatty substances called lipids Lipids start to build up in certain organs such as your spleen and liver. Learn about the symptoms and types of gaucher disease, plus available treatments like enzyme replacement therapy (ert) and substrate reduction therapy (srt). Webmd explains the causes, symptoms, and treatment of gaucher disease, a genetic disease that can cause damage to organs such as spleen, liver, and brain.
Gaucher disease is a genetic condition that affects the body’s ability to break down certain fats Learn about gaucher disease, including its causes and symptoms.
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