Table 5.
NBS enzyme activity, confirmatory testing results and final diagnosis in newborns with suspicion of Fabry Disease. Newborns were ordered based on neonatal screening enzyme activity.
| Fabry Disease | NBS Enzyme Activity | % Enzyme Activity | Sex | Ethnic Origin | Second-Tier DBS LysoGb3 * (nmol/L) | Genotype | Predicted Phenotype [31] |
|---|---|---|---|---|---|---|---|
| GLA-01 | 0.64 | 6.1 | M | European | 1.02 | p.N215S | Type 2 FD |
| GLA-02 | 0.72 | 6.9 | M | North Africa | 1.79 | p.R363H | Type 2 FD |
| GLA-03 | 0.73 | 7.0 | M | European | 2.98 | p.R356G | Type 2 FD Likely |
| GLA-04 | 0.77 | 7.3 | M | East Asia | 0.75 | IVS4+919G>A | Type 2 FD |
| GLA-05 | 0.79 | 7.5 | M | European | 0.41 | p.M290L | Type 2 FD |
| GLA-06 | 0.87 | 8.3 | M | European | 0.73 | p.G116A | VUS (Not reported) |
| GLA-07 | 1.16 | 11.1 | M | East Asia | 0.62 | IVS4+919G>A | Type 2 FD |
| GLA-08 | 1.28 | 12.2 | M | European | 1.06 | p.L286V | VUS (Not reported) |
| GLA-09 | 1.37 | 13.1 | M | European | 0.83 | p.M51I | Type 2 FD |
| GLA-10 | 1.51 | 14.4 | M | West Africa | 0.96 | p.R356Q | Type 2 FD |
| GLA-11 | 2.05 | 19.6 | M | European | 0.54 | p.A143T | Benign |
GLA, acid α-galactosidase; * DBS LysoGb3 normal values: <1.45 nmol/L [17].