Silva, Liana CasquinhaDuarte, André Alexandre Rodrigues Besouro2019-01-292019-01-2920142013http://hdl.handle.net/10451/36736Trabalho Final de Mestrado Integrado, Ciências Farmacêuticas, Universidade de Lisboa, Faculdade de Farmácia, 2014The Gaucher Disease (GD) is the most prevalent lysosomal illness in humans and it is caused by the deficiency in the enzyme Glucosylceramidase (GlcCerase) or β-D-Glucosyl-N-Acylsphingosine-Glucohydrolase. The symptoms result from the accumulation of a sphingolipid, Glucosylceramide (GlcCer), in phagocytic cells which will gather in organs such as the spleen, liver and bone obstructing its vessels. Some recent articles indicate that, in addition to the classic knowledge about this disease, new markers and key points are being revealed that emphasize the role of the immune system in this disease. As such this paper aim is to overview the new discoveries regarding the disease mechanisms, focusing on the role of the immune system in the several different manifestations.engGaucher diseaseGlucocerebrosidaseGlucosylceramideImmune systemMestrado Integrado - 2014master thesis