Gaucher 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 β-glucosidase acid (EC 3.2.1.45)) [1] or, rarely, its activator (saposin C) [2,3]. The gene discussed is GBA1; the disease is Gaucher disease.