Dr. Philippe Gaucher first described, in 1882, the symptoms now known as Gaucher Disease. It is an autosomal recessive disease and the most prevalent *Lysosomal Storage Disorder (LSD), with an incidence of about 1 in 20,000 live births. Despite the fact that Gaucher Disease consists of a phenotype, with varying degrees of severity, it has been sub-divided in three subtypes according to the presence or absence of neurological involvement. It is also the most common genetic disease affecting Ashkenazi Jewish people (Eastern, Central and Northern European ancestry), with a carrier frequency of 1 in 10 (Dr. John Barranger and Dr. Ed Ginns 1989). This pan ethnic disease involves many organ systems, such as liver, spleen, lungs, brain, metabolism and bone marrow.
Gaucher Disease results from a specific enzyme deficiency (glucocerebrosidase) in the body, caused by a genetic mutation received from both parents. The disease course is quite variable, ranging from no outward symptoms to severe disability and death. Carrier status can be detected through blood or saliva to identify potential carriers of the Gaucher gene. Gaucher disease can be diagnosed early through a blood test. Fortunately, effective treatments are available for some variants of the Disease.
*LSD: A group of disorders that affect specific enzymes. These enzymes normally break down items for reuse in the cells. If the enzymes are missing or don't work properly the items can build up and become toxic. This occurs in an area of the cell called lysosomes.
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For Research and trials for Gaucher Disease go to www.clinicaltrials.gov