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 ?
The winning videos were chosen by an independent external judging panel including representatives from the EGA, The Ma'aleh Film School, and the Gaucher disease medical and/patient community.
Genetic counseling was performed at the first obstetric examination and a prenatal testing for Gaucher disease and amniotic fluid sampling (16th week) were carried out, thereby, the existence of the disease and other chromosomic anomalies was excluded.
1 Enzyme replacement therapy (ERT): (1) imiglucerase, an analogue of human intracellular glucocerebrosidase, is the treatment of choice for types 1 and 3 Gaucher disease.
Gaucher disease has classically been categorized into 3 clinical types.
In August 2009, the FDA granted orphan drug status and fast track designation to taliglucerase alfa for the treatment of Gaucher disease and Protalix filed a rolling NDA submission with the FDA in December 2009.
Gaucher disease is an autosomal recessive disorder caused by a mutation on chromosome 1q21.
To address this need, we evaluated measurements of acid [beta]-glucosidase activity and protein as markers for the diagnosis of Gaucher disease and for the prediction of neurologic involvement.
The study enrolled twelve patients with Type I Gaucher disease from several countries.
The most common form of Gaucher disease, Type 1, affects one in 100,000 of the general population although it is estimated not all those who have Gaucher disease will show symptoms.
Gaucher disease, recommendations on diagnosis evaulation and monitoring.
Because individuals with Gaucher disease cannot break down glucocerebroside, it remains stored in some cells of the body.