Gaucher disease - Symptoms and causes - Mayo Clinic
网页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 Disease: Symptoms, Causes & Treatment - Cleveland Clinic
网页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 - Johns Hopkins Medicine
网页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 …
Gaucher's disease - Wikipedia
网页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.
Gaucher Disease - Symptoms, Causes, Treatment | NORD
网页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: Causes, Symptoms, and Treatment - WebMD
网页2023年10月12日 · Gaucher disease is a rare condition that can cause a variety of symptoms, from weakening of your bones to easy bruising. There's no cure. But depending on which type you have, treatment can...
What Is Gaucher Disease? | National Gaucher Foundation
网页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.
Gaucher disease - MedlinePlus
网页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. Type 1 Gaucher disease is the most common form of this condition.
Gaucher disease - Diagnosis and treatment - Mayo Clinic
网页2022年4月30日 · While there's no cure for Gaucher disease, a variety of treatments can help control symptoms, prevent irreversible damage and improve quality of life. Some people have such mild symptoms that they don't need treatment.
Gaucher Disease - StatPearls - NCBI Bookshelf
网页2023年11月12日 · Gaucher disease (pronounced as GO-SHEY) is an autosomal recessive inborn error of metabolism caused by mutations in the glucocerebrosidase () gene. GBA1 is an enzyme that cleaves the beta-glucosidic linkage of glucocerebroside lipids.