The study identified another 11 cases in which the DBS had below-normal quantification of enzyme activity without genetic confirmation of GD or ASMD (10 DBS with glucocerebrosidase < 1.5 μmol/mL/h; 1 DBS with sphingomyelinase < 1.2 μmol/mL/h). Here, GBA1 is linked to anterior segment dysgenesis.