Table 1.
Summary of NBS programs for Pompe disease.
| Country (No. of Newborns) |
No. of Recalls (%) | No. of Patients (Prevalence) | Screening Method | Frequently Detected Pathogenic Variants | Reference | ||
|---|---|---|---|---|---|---|---|
| IOPD | LOPD | ||||||
| Taiwan (473,738) |
2210 (0.47) | 9 (1/52,638) | 19 (1/24,934) | fluorometric assay | c.1935C>A, c.2238G>C | Chiang et al. (2012) [36] | |
| Taiwan (191,786) |
874 (0.46) | 5 (1/38,357) | 11 (1/17,435) | MS/MS | c.1935C>A, c.[752C>T; 761C>T] |
Liao et al. (2014) [37] | |
| Taiwan (64,148) |
92 (0.14) | 1 (1/64,148) | 5 (1/12,830) | MS/MS | NA | Chiang et al. (2018) [38] | |
| Japan (103,204) |
225 (0.24) | 0 | 3 (1/34,401) | fluorometric assay | c.[752C>T; 761C>T], c.317G>A |
Momosaki et al. (2019) [7] | |
| USA | Washington (111,554) |
17 (0.02) | 0 | 4 (1/27,889) | MS/MS | c.-32-13T>G | Scott et al. (2013) [39] |
| Washington (44,047) |
9 (0.02) | 0 | 1 (1/44,047) | MS/MS | c.2168del13ins10 | Elliott et al. (2016) [40] | |
| Missouri (43,701) |
18 (0.04) | 3 (1/14,567) | 5 (1/8740) | DMF | NA | Hopkins et al. (2015) [41] | |
| Illinois (219,973) |
139 (0.06) | 2 (1/149,987) | 8 (1/37,497) | MS/MS | c.-32-13T>G | Burton et al. (2017) [42] | |
| New York (18,105) |
6 (0.03) | 0 | 1 (1/18,105) | MS/MS | c.-32-13T>G | Wasserstein et al. (2019) [43] | |
| Austria (34,736) |
5 (0.01) | 0 | 4 (1/8684) | MS/MS | c.896T>C, c.-32-13T>G | Mechtler et al. (2012) [44] | |
| Hungary (40,024) |
163 (0.41) | 0 | 9 (1/4447) | MS/MS | c.664G>A, c.-32-13T>G | Wittmann et al. (2012) [45] | |
| Italy (44,411) |
8 (0.02) | 2 (1/22,206) | 0 | MS/MS | c.-32-13T>G, c.236_246del | Burlina et al. (2018) [46] | |
| Mexico (20,018) |
19 (0.09) | 0 | 1 (1/ 20,018) | MS/MS | c.1375G>A | Navarrete-Martínez et al. (2017) [47] | |
| Brazil (103,204) |
NA | 0 | 0 | DMF | - | Bravo et al. (2017) [48] | |
NA: not available.