Gaucher disease (GD), the most common lysosomal disorder, is caused by a deficiency of glucocerebrosidase (GCase) due to GBA1 pathogenic variants, leading to the accumulation of the substrate Gb-1 and its derivative lyso-Gb1, primarily affecting cells and tissues of the reticuloendothelial system. Here, GBA1 is linked to lysosomal storage disease.