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.

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.
References in periodicals archive ?
A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease.
Gaucher's disease affects the lysosomes, which are the so-called garbage recyclers of our cells.
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In the new study, the researchers revealed how the widely available prescription drugs diltiazem, verapamil, and in some cases dantrolene, acted on cells from patients with Gaucher's disease.
On 1 December 2009, Pfizer (NYSE: PFE) and Protalix inked an agreement to develop and commercialise taliglucerase alfa for the treatment of Gaucher's disease.
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.
Novel oral treatment of Gaucher's disease with lubutyldeoxynojirimycin (OGT918) to decrease substrate biosynthesis.