Gaucher's disease

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Related to Gaucher disease: Niemann Pick disease

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 ?
Before start of therapy, G1cCer was higher in patients with Gaucher disease than in controls [mean concentration of G1cCer in plasma from controls was 6.
Gaucher disease can have a profound impact on the musculoskeletal system.
7] It has been suggested that the reported associations between Gaucher disease and multiple myeloma represent cases of misdiagnosed CSH.
Because individuals with Gaucher disease cannot break down glucocerebroside, it remains stored in some cells of the body.
The data presented at this year's WORLD symposium reinforce our confidence that eliglustat tartrate may become an important oral option for patients with Gaucher disease," said Genzyme's Head of Rare Diseases, Rogerio Vivaldi MD.
Recommendations on diagnosis, treatment, and monitoring for Gaucher disease.
KEY WORDS: Gaucher disease, Enzyme replacement therapy, Cerezyme.
The company added that Cerdelga is a specific ceramide analogue inhibitor of glucosylceramide synthase (IC50 = 10 ng/mL) with broad tissue distribution and reduces the production of glucosylceramide, the substance that builds up in the cells and tissues of people with Gaucher disease.
The study, which reached its primary endpoint, demonstrated a mean reduction in spleen volume in both treatment arms studied (60 U/kg, 30 U/kg taliglucerase alfa) in patients with Gaucher disease in a highly significant statistical manner.
While initially Gaucher disease was thought to be more prevalent in the Jewish Ashkenazi population, it is now regarded as being pan-ethnic with a specific genotype, the N370S mutation being more prevalent in that group.
More than 187 mutations in the [beta]-glucosidase gene have been associated with Gaucher disease (4), although there are rare instances of mutations in the prosaposin gene producing a Gaucher phenotype (5).