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.

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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 ?
For the first time in the medical history of India, Gaucher Disease Day was observed by Lysosomal Storage Disorder Support Society (LSDSS) and the All India Institute of Medical Sciences (AIIMS), Delhi.With an aim to spread awareness about the rare genetic disorder, a workshop was held at the medical institute on Gaucher Day, providing an opportunity to recognize the illness as a critical health problem in order to advanceits prevention and control.
Since Gaucher disease is rare, it is difficult to obtain large numbers of patients for studies.
The study about the outcome of ten years' echocardiographic findings in children with Gaucher disease stated that follow up echocardiography was not necessary if baseline was normal.
Here we describe a simple method for the simultaneous quantification of Cer and neutral glycosphingolipids in plasma and its application for monitoring G1cCer and Cer in patients with Gaucher disease on ERT and SRT and for ceramide trihexoside (CTH) and Cer in patients with Fabry disease on ERT.
Gaucher disease was first reported by French dermatologist, Phillipe Charles Ernest Gaucher, in 1882.
Crystal-storing histiocytosis has since been reported throughout the body, including lymphoreticular sites (spleen, bone marrow, lymph nodes, and thymus), soft tissues (retroperitoneum, breast, and subcutaneous), visceral organs (heart, lungs, pleura, kidneys, adrenal glands, urinary bladder, pancreas, liver, and gastrointestinal tract), and head and neck (meninges, corneas, nasopharynx, larynx, tongue, thyroid, and parotid gland).[6-9] As mentioned earlier, the cells of CSH have been likened to those seen in Gaucher disease. Similar-appearing pseudo-Gaucher cells are seen in chronic myelogenous leukemia.
Because individuals with Gaucher disease cannot break down glucocerebroside, it remains stored in some cells of the body.
Arimoclomol is in clinical development at Orphazyme for the treatment of Niemann-Pick disease Type C, Gaucher disease, sporadic Inclusion Body Myositis, and amyotrophic lateral sclerosis.
Avrobio is focused on the development of its investigational gene therapy, AVR-RD-01, in Fabry disease, as well as additional gene therapy programs in other lysosomal storage disorders including Gaucher disease, cystinosis and Pompe disease.
Net proceeds from the offering, along with existing cash resources, may be used by the company to fund the support of its current programmes in Fabry disease, Gaucher disease, cystinosis and Pompe disease, fund external and internal manufacturing, fund process development and research and development activities, planned general and administrative expenses, working capital as well as other general corporate purposes.