BACKGROUND
Lysosomal storage disorders are rare inborn errors of metabolism. Of these, Gaucher's disease (GD) is the most prevalent, it being genetically determined by several mutations of the ß-glucocerebrosidase (GBA, also known as β-glucosidase or E.C.3.2.1.45) gene which is located on chromosome 1 (1q21).
Philippe Gaucher, the French physician, described clinical picture of GD for the first time in Paris 1882. He thougt that big unusual cells in the enlarged spleen was the sign of primary spleen cancer.
GD can be found in all ethnic groups (panethnic disease). The overall prevalence is around 1:50,000-200,000 people. However, some geografic regions and some ethnical groups has a higher prevalence. In Sweden, GD is particularly prevalent in Northern Sweden (Norrbotten and northern Västerbotten regions) where the estimated incidence is 1:10,000 live-born children. The highest prevalence of GD is present among Ashkenazi Jews, 1:450-1,000.
Overwiev
Here can you find a lecture entitled 'Overview of the spectrum of Gaucher disease' (as PDF) given the 9th October 2009 in Skellefteå, Sweden by Dr Maciej Machaczka during the Educational Session at the Annual Meeting 2009 of the Swedish Society of Hematology.
Link to the lecture: Gaucher disease - overwiev
