GUSB and lysosomal storage disease: Pseudodeficiency variants were also identified in other lysosomal storage disorders, such as p.R247W and p.R249W in the HEXA gene (47), p.A300T in the IDUA gene (48), p.R595W in the GLB1 gene (49), p.D152N in the GUSB gene (50), and p.D313Y in the GLA gene (51).