GBA1 and Gaucher disease: Gaucher’s disease (GD), a rare autosomal–recessive disorder with an approximate prevalence of 1/75,000 live births worldwide, is due to the deficiency of a lysosomal enzyme (glucocerebrosidase, glucosylceramidase or glucosidase-β acid (EC 3.2.1.45))[1] or, more rarely, its activator (saposin C)[2,3].