Table 1.
Clinical, genetic, and muscle MRI findings in 12 patients with infantile-onset Pompe disease and 4 patients with late-onset Pompe disease
| Noa | Age of ERT start | Current age (yr) | GAA gene | Each MRI scan | ||||
|---|---|---|---|---|---|---|---|---|
| Mutation 1 | Mutation 2 | Age (yr) | MRI Score | CK (U/L) | Mobility scores | |||
| NBS2 | 26 D | 9.2 | c.1935C > Ab | c.1411_1414delc | 4.9 | 17 | 595 | 20.2 |
| 8.1 | 24 | 2500 | <10 | |||||
| NBS3 | 29 D | 9.1 | c.1935C > A | c.2842insT | 4.0 | 19 | 2135 | 18.46 |
| 5.8 | 23 | 2444 | <10 | |||||
| 8.0 | 25 | 1957 | <10 | |||||
| NBS4 | 17 D | 8.5 | c.1935C > A | c.784G > A | 6.3 | 22 | 1642 | 12.12 |
| 8.4 | 22 | 1674 | 22.51 | |||||
| NBS5 | 34 D | 8.0 | c.1935C > A | c.1935C > A | 2.9 | 15 | 1238 | 33.33 |
| 4.9 | 21 | 1663 | 26.05 | |||||
| NBS6 | 12 D | 7.6 | c.1935C > A | c.[1062C > G; 1286A > G] | 2.5 | 18 | 735 | 35.89 |
| 6.1 | 18 | 596 | 21.88 | |||||
| NBS8 | 14 D | 6.2 | c.1935C > A | c.1197_1208del | 6.2 | 21 | 1156 | 4.64 |
| NBS9 | 39 D | 5.9 | c.1935C > A | c.2040 + 1G > T | 0.6 | 12 | 198 | 32.90 |
| 4.4 | 9 | 1030 | 30.83 | |||||
| NBS10 | 6 D | 4.5 | c.1935C > A | c.1935C > A | 1.0 | 14 | 733 | 44.05 |
| 3.0 | 12 | 1020 | 58.89 | |||||
| NBS11 | 14 D | 4.4 | c.1935C > A | c.1935C > A | 3.0 | 16 | 941 | 30.06 |
| NBS12 | 16 D | 4.1 | c.1935C > A | c.1197_1208del | 1.3 | 18 | 246 | 24.44 |
| 3.1 | 22 | 673 | 24.53 | |||||
| NBS14 | 10 D | 2.8 | c.1935C > A | c.1935C > A | 0.0 | - | 637 | - |
| 0.6 | 16 | 344 | - | |||||
| 3.1 | 15 | 760 | - | |||||
| CLN3 | 3 M | 9.0 | c.1935C > A | c.1411_1414delc | 6.5 | 20 | 1904 | 26.87 |
| 9 | 19 | 1565 | 24.40 | |||||
| NBSL2 | 3 Y | 8.4 | c.2238G > C | c.2662G > T | 1.5 | 11 | 267 | 52.19 |
| 7.3 | 11 | 267 | 38.74 | |||||
| NBSL6 | 3.5 Y | 7.7 | c.1935C > A | c.[752C > T; 761C > T] | 2.7 | 7 | 113 | 39.85 |
| 5.8 | 7 | 222 | 37.85 | |||||
| NBSL12 | - | 6.4 | c.1935C > A | c.[752C > T; 761C > T] | 3.5 | 7 | 87 | 60.99 |
| NBSL16 | 4 M | 4.6 | c.1935C > A | c.1634C > T | 0.4 | 7 | 861 | - |
| 3.3 | 7 | 173 | 53.03 | |||||
D days, M months, Y years; MRI score: MRI severity scores from seven groups of muscles; Mobility scores: Pompe PEDI (Pediatric Evaluation of Disability Inventory specific for Pompe disease) mobility normative scores
aPatients were numbered by previous studies that NBS indicates classic IOPD detected by screening, NBSL indicates LOPD detected by screening, and CLN indicates clinically diagnosed patients
bThis mutation is always associated with the c.1726G > A mutation
cThis mutation is associated with the c.[752C > T; 761C > T] mutation