Gaucher Disease - A Focus on Pathogenesis

Gaucher disease is a progressive, heterogenous, multi-systemic disease that can lead to debilitating and life-threatening complications. Males and females have an equal chance of being affected by the disease. Gaucher disease can be inherited, however, both parents must be carriers to be at risk of giving birth to a child with Gaucher disease. It is caused by a mutation in a specific gene, which results in significantly reduced activity of the lysosomal enzyme acid beta-glucosidase. The deficiency leads to progressive storage of glucosylceramide primarily in cells of the monocyte/macrophage lineage. A consequence of the accumulation of lipid-laden "Gauche cells" causes a spectrum of visceral, hematologic, and skeletal manifestations, which primarily involves the reticule-endothelial system.