Table 3.
Cutoff values used for the screening procedure. Average enzyme activities, standard deviations, lower 0.25th and 0.5th percentile of distribution for the respective diseases, and empirically derived cutoffs for the respective disease
| Disease | Average enzyme activity μmol/l/h (n = 40,024) | SD | Median | Lower 0.25th percentile | Lower 0.5th percentile | Cutoff used |
|---|---|---|---|---|---|---|
| Gaucher | 17.7 | 9.8 | 15.7 | 3.26 | 3.85 | 3.50 |
| Niemann Pick | 9.2 | 4.6 | 8.3 | 1.94 | 2.3 | 2.00 |
| Pompe | 15.0 | 7.6 | 13.6 | 2.64 | 3.21 | 3.00 |
| Fabry | 11.0 | 8.0 | 9.0 | 2.09 | 2.45 | 2.50 |