2022年4月30日 · Gaucher (go-SHAY) disease is the result of a buildup of certain fatty substances in certain organs, particularly your spleen and liver. This causes these organs to enlarge and can affect their function.

Gaucher's disease or Gaucher disease (/ ɡ oʊ ˈ ʃ eɪ /) (GD) is a genetic disorder in which glucocerebroside (a sphingolipid, also known as glucosylceramide) accumulates in cells and certain organs.

2023年8月21日 · Gaucher disease (pronounced “go-shay”) is an inherited lysosomal storage disorder (LSD), a type of disease that causes fatty substances (sphingolipids) to build up in your bone marrow, liver and spleen. The sphingolipids weaken bones and enlarge your organs, so they can’t work as they should.

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.

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 genetic disorder where fat-laden Gaucher cells build up in areas like the spleen, liver and bone marrow. A person will get Gaucher Disease if both parents are carriers of the disease.

2023年11月12日 · Gaucher disease, the most prevalent lysosomal storage disorder, presents with an elevated incidence among Ashkenazi Jews. It is an autosomal recessive inborn error of metabolism characterized by the toxic accumulation of …

Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. The signs and symptoms of this condition vary widely among affected individuals. Researchers have described several types of Gaucher disease based on their characteristic features.

2024年9月9日 · Gaucher Disease (GD) is a lysosomal disorder characterized by an enlarged liver and/or spleen (hepatosplenomegaly), low levels of circulating red blood cells (anemia), low levels of platelets (thrombocytopenia) and skeletal abnormalities.

Gaucher disease is a rare, inherited disorder where fatty cells build up in areas including the liver, spleen, and bone tissue and marrow. The organs enlarge—sometimes as much as 50 times its normal size for the spleen—and bones are affected, which increases the risk of fracture and severe bone pain (called a “bone crisis”) that ...