Table 1 Patient characteristics
From: Childhood Pompe disease: clinical spectrum and genotype in 31 patients
Pt | Sex | Onset (y)g | Diagnosis (y)g | Examination (y)g | Wheelchair (y) | Ventilator (y) | FVC z-score sitting (% pred) | FVC z-score supine (% pred) | MRC % | CK U/l | GAA activity (nmol/h/mg)h | Allele 1 | Allele 2 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1a | M | 0.5 | 2.5 | 10.04 | Yes (11) | No | –0.25 (97 %) | –1.12 (87 %) | 65 % | 530 | 9.1 | c.-32–13T > G (pm) | c.525delT (vs) |
2e, f | F | 0.8 | 0 | 0.1 | No | No | Too young | Too young | n.a. | 358 | Deficient | c.-32–13T > G (pm) | c.2135 T > C (ls) |
3 | F | 0.8 | 1.1 | 8.9 | No | No | 0.21 (102 %) | 0.1 (101 %) | 89 % | 1871 | 13.3 | c.-32–13T > G (pm) | c.923A > C (pls) |
4e | M | 0.8 | 2 | 2.4 | No | No | Too young | Too young | n.a. | 1353 | 13 | c.-32–13T > G (pm) | c.2135 T > C (ls) |
5 | M | 0.8 | 2.3 | 9.5 | No | No | –1.53 (82 %) | –1.71 (80 %) | 98 % | 550 | 15.4 | c.-32–13T > G (pm) | c.525delT (vs) |
6 | M | 1 | 2 | 8.2 | Partially (4) | No | –3.47 (59 %) | –4.36 (48 %) | 79 % | 3078 | 4.5 | c.-32–13T > G (pm) | c.1051delG (vs) |
7 | M | 1 | 2 | 13.7 | No | At night (12) | –4.08 (54 %) | –5.4 (39 %) | 87 % | 548 | 17.9 | c.-32–13T > G (pm) | c.525delT (vs) |
8 | M | 1.5 | 2 | 13.3 | No | No | –0.91 (90 %) | –1.76 (80 %) | 93 % | 1595 | 16 | c.-32–13T > G (pm) | c.2481 + 102_2646 + 31del (vs) |
9a, f | M | 2 | 1 | 6.6 | No | No | –0.97 (89 %) | –1.4 (84 %) | 94 % | 763 | 11 | c.-32–13T > G (pm) | c.525delT (vs) |
10 | M | 2.5 | 3 | 13 | No | No | –3.01 (66 %) | –4.09 (54 %) | 84 % | 1960 | 8.6 | c.-32–13T > G (pm) | c.2331 + 2 T > A (vs) |
11d | M | 5 | 10.8 | 10.8 | No | No | 0.2 (102 %) | –0.29 (97 %) | 97 % | 588 | 11.9 | c.-32–13T > G (pm) | c.525delT (vs) |
12 | F | 5 | 7.8 | 7.8 | No | No | 0.62 (108 %) | 0.35 (104 %) | 100 % | 1003 | 11.6 | c.-32–13T > G (pm) | c.2331 + 2 T > A (vs) |
13f | M | 5 | 2 | 7.6 | No | At night (5) | –1.77 (78 %) | –1.72 (79 %) | 100 % | 436 | Deficient | c.-32–13T > G (pm) | c.1062C > G (pls) |
14 | M | 7 | 10 | 10.7 | Yes (22) | At night (16) | –2.22 (75 %) | Unable | 80 % | 540 | 8,9 | c.-32–13T > G (pm) | c.1548G > A (pls) |
15f | M | 8 | 4 | 15.8 | No | No | –2.65 (70 %) | –3.05 (65 %) | 93 % | 1424 | 7.8 | c.-32–13T > G (pm) | c.1441 T > C (pls) |
16f | M | 12 | 8 | 14.6 | No | No | –2.43 (71 %) | Unable | 82 % | 1808 | Deficient | c.-32–13T > G (pm) | c.307 T > G + c.271G > A (pls) |
17 | M | 13 | 14 | 14.3 | No | No | –1.68 (81 %) | –1.77 (80 %) | 95 % | 2935 | 6.2 | c.-32–13T > G (pm) | c.1933G > A (pls) |
18f | M | no symptoms | 4 | 5.2 | No | No | –1.41 (82 %) | –1.96 (76 %) | 97 % | 677 | Deficient | c.-32–13T > G (pm) | c.2481 + 102_2646 + 31del (vs) |
19d, f | M | no symptoms | 13.1 | 13.1 | No | No | –0.69 (92 %) | –1.77 (80 %) | 100 % | 614 | Deficient | c.-32–13T > G (pm) | c.525delT (vs) |
20c, f | M | no symptoms | 14 | 15.2 | No | No | 3 (135 %) | 1.72 (120 %) | n.a. | 1409 | Deficient | c.-32–13T > G (pm) | c.307 T > G (pls) |
21c, f | M | no symptoms | 16 | 17.1 | No | No | 1.29 (115 %) | –0.25 (97 %) | n.a. | 1506 | Deficient | c.-32–13T > G (pm) | c.307 T > G (pls) |
22 | M | 0.5 | 1 | 1.3 | Yes (4) | Died (10)i | –4.77 (45 %)j | Unable | n.a. | 586 | Deficient | c.1798C > T (ls) | c.525delT (vs) |
23 | F | 1 | 1.9 | 12.5 | Yes (6) | Yes (6) | Ventilator | Ventilator | 10 % | 1381 | Deficient | c.875A > G (pm) | unknown/r.0? |
24 | M | 2 | 2.9 | 2.9 | Yes (6) | Died (6)i | –5.29 (33 %)j | Unable | n.a. | 1046 | Deficient | unknown | c.1645G > A (pm) |
25 | M | 2.7 | 3.5 | 5.9 | No | No | 0.34 (104 %) | 0.04 (100 %) | 87 % | 908 | 2.8 | c.1634C > T (ls) | c.2481 + 102_2646 + 31del (vs) |
26b | F | 4 | 4 | 8.1 | No | No | 0.01 (100 %) | –0.63 (92 %) | 98 % | 572 | 2.3 | c.-32–3C > G (ls) | c.1551 + 1G > A (vs) |
27b | M | 5 | 5 | 10.1 | No | No | –1.38 (84 %) | –2.55 (71 %) | n.a. | 774 | 1.7 | c.-32–3C > G (ls) | c.1551 + 1G > A (vs) |
28 | F | 6 | 7 | 9.9 | Partially (9) | At night (8) | –6.36 (30 %) | –6.88 (25 %) | 82 % | 979 | 0.3 | c.1829C > T (ls) | c.1912G > T (pls) |
29 | F | 6.5 | 11.6 | 12.7 | No | No | –2.36 (73 %) | –2.89 (67 %) | 79 % | 776 | 8.4 | unknown (r.spl 2 %) | c.525delT (vs) |
30 | F | 10 | 11 | 16.4 | Yes (16) | Yes (12) | –8.07 (13 %) | Unable | 72 % | 1560 | 3.4 | c.-32–3C > A (ls) | c.877G > S + c.271G > A (pls) |
31f | F | no symptoms | 15 | 15.9 | No | No | 1.33 (116 %) | 1.2 (115 %) | 100 % | 1040 | 2.5 | c.861C > T (r.spl = <5 %) | c.925G > A (pls) |