Zufit Hexner-Erlichman

Introduction Gaucher disease (GD) is a rare lysosomal storage disorder caused by autosomal recessive mutations in the β-glucocerebrosidase (GBA1) gene that leads to a deficiency in the activity of glucocerebrosidase, the enzyme responsible for lysosomal glucosylceramide degradation.1-3 Lack of GBA activity results in accumulation of glucosylceramide in the lysosomes of macrophages, causing hepatosplenomegaly, pancytopenia and bone manifestations.1, 4, 5 GD is a pan-ethnic disorder, classified...