GBA1 and lysosomal storage disease: Gaucher disease (GD, MIM #606463), an autosomal recessive lysosomal storage disorder, is caused by mutations in GBA1. Deficient GCase leads to lysosomal substrate accumulation in cells of the macrophage lineage and clinical manifestations including organomegaly, anemia, thrombocytopenia, osteopenia and inflammation (Beutler and Grabowski, 2001; Sidransky, 2004).