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 ?
This report provides comprehensive information on the therapeutic development for Gaucher's Disease, complete with comparative analysis at various stages, therapeutics assessment by drug target, mechanism of action (MoA), route of administration (RoA) and molecule type, along with latest updates, and featured news and press releases.
Replacement therapy for inherited enzyme deficiency--macrophage-targeted glucocerebrosidase for Gaucher's disease.
Scope of this research includes a snapshot of the global therapeutic landscape of Gaucher's Disease, review of key pipeline products under drug profile section which includes, product description, MoA and R&D brief, licensing and collaboration details & other developmental activities as well as reviews of key players involved in the therapeutics development for Gaucher's Disease and enlists all their major and minor projects.
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.
Acute bilateral symmetrical pathologic fractures of the lateral tibial plateaus in a patient with Gaucher's disease.
About one-third of the cases of Gaucher's Disease are diagnosed within the first decade, while the remainder are diagnosed during adulthood.
People with Gaucher's disease inherit a defective enzyme that cannot break down a fatty substance called glucocerebroside.
A snapshot of the global therapeutic scenario for Gaucher's Disease.
Now, in the largest studies of their kind, two research teams have discovered significant associations between particular combinations of genetic mutations and the severity of Gaucher's disease.
The finding will improve genetic counselingfor victims of the the most serious forms of Gaucher's disease, which is caused by the enzyme deficiency, report the researchers in the March 5 NEW ENGLAND JOURNAL OF MEDICINE.