Gaucher disease, the most common glycolipid storage disease, is caused by
glucocerebrosidase deficiency, resulting in accumulation of glucocerebrosides within the
macrophages of the reticuloendothelial system. The disease is characterized by great
phenotypic heterogeneity, which can be explained only in part by the various mutations in
the glucocerebrosidase gene, and by the amount of storage material in affected organs and
tissues. Therefore, it has been postulated that some of the biochemical and clinical features …