Gaucher's disease

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Gaucher's disease

(gōshāz`), rare genetic disease involving a deficiency of an enzyme, glucocerebrosidase, which normally breaks down certain body glycolipids (i.e., lipidslipids,
a broad class of organic products found in living systems. Most are insoluble in water but soluble in nonpolar solvents. The definition excludes the mineral oils and other petroleum products obtained from fossil material.
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 (fats) that have a sugar molecule attached). There are three types of the disease. In all three types, the enzyme deficiency results in a buildup of the glycolipid glucocerebroside in the bone marrow, liver, and spleen, resulting in anemia and other blood disorders, bone pain and pathologic fractures, and enlarged liver and spleen. In Type II, the central nervous system is also affected. Patients are severely mentally retarded and have difficulty controlling their muscles. The disease progresses quickly from birth and usually is fatal by the age of two. In Type III disease, the course is chronic and central nervous system involvement begins later on. The symptoms are the same as those of Type II. Type I disease occurs most often in Ashkenazi Jews of Eastern European origin, Type III in people of Swedish origin.

There is no cure for Gaucher's disease, but in 1991 an enzyme replacement drug, Ceridase, was approved and allowed people with Type I disease (the most common) to live nearly normal lives. Ceridase was extracted from human placental tissue in very small amounts and the supply was limited. In 1994, a genetically engineered version of the drug (Cerezyme) was introduced. Both were developed as orphan drugs and were controversial because of their costliness.

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Gaucher's disease

[gō′shāz di‚zēz]
(medicine)
A rare chronic, probably hereditary disease in which cells loaded with cerebrosides become localized in reticuloendothelial tissue and eventually cause tissue destruction; manifestations include enlargement of the spleen, bronzing of the skin, and anemia. Also known as cerebroside lipoidosis; familial splenic anemia.
McGraw-Hill Dictionary of Scientific & Technical Terms, 6E, Copyright © 2003 by The McGraw-Hill Companies, Inc.
References in periodicals archive ?
Indeed, life may be tough for individuals who suffer from Gaucher's disease, a rare and inherited disorder wherein the deficiency of enzyme called beta-glucocerebrosidase (that is produced in our cells) results in the accumulation of a fatty substance called glucocerebroside into a sugar and a simpler fat molecule throughout the body, more often in the bone marrow, spleen and liver.
* The report reviews key players involved in the therapeutics development for Gaucher's Disease and enlists all their major and minor projects
* Identify and understand important and diverse types of therapeutics under development for Gaucher's Disease.
"This study is likely to motivate clinical trials for the treatment of neuropathic lysosomal storage diseases, including Gaucher's disease, where the current standard of care, enzyme replacement therapy, is ineffective," Nature quoted team leader Dr.
Taliglucerase alfa is currently being provided to Gaucher's patients in the US under an expanded access protocol, as well as to patients in the European Union under a compassionate use protocol, Protalix said.
The drug produces the enzyme--a type of protein that triggers a biochemical reaction-that's deficient in Gaucher's patients.
Shire Pharmaceuticals PLC is also seeking approval in the United States to sell a drug for Gaucher's disease.
Replacement therapy for inherited enzyme deficiency: macrophage-targeted glucocerebrosidase for Gaucher's disease.
Upper limb involvement in patients with Gaucher's disease.
The recent arrival on the market of a modified glucocerebrosidase (Ceredase) for Gaucher's Disease and last year's approval of PEG-adenosine deaminase for severe combined immunodeficiency disease illustrate the growing capabilities of the pharmaceutical industry to provide endogenous compounds that patients are lacking.
Brady first proposed enzyme-replacement therapy for Gaucher's disease 25 years ago.