Quantification of enzyme activity showed a mean glucocerebrosidase value of 0.35 μmol/mL/h (normal ≥ 1.5) in patients with GD and a mean sphingomyelinase value of 0.45 μmol/mL/h (normal ≥ 1.2) in ASMD, clearly lower than in other cases without lysosomal disease (Table 2). The gene discussed is GBA1; the disease is Lysosomal disease.