Table 2 Long-term complications in 26 adult patients with glycogen storage disease type Ia
Subject | Sex | Recent age (years) | Age at diagnosis (years) | Presenting symptoms | Allele 1 | Allele 2 | DL | HA | OP | RC | SS (SDS) | AN | DP | GT | PH | HCC |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1a | F | 47.8 | 29.2 | FS, OP | c.648G > T | c.648G > T | + | – | + | – | −1.0 | – | – | + | – | – |
2 | M | 43 | 42 | HM, GT | c.648G > T | c.648G > T | + | + | – | + | −2.9 | + | – | + | – | + |
3 | M | 43 | 23 | Hp, GT | c.648G > T | c.648G > T | + | – | – | + | −2.7 | + | – | + | – | – |
4a | M | 41 (Ex) | 31 | Hp, Ds | c.648G > T | c.648G > T | + | + | – | – | − 3.3 | – | – | + | + | – |
5b | F | 40 | 36 | GT, FS | c.648G > T | c.648G > T | + | – | – | – | 0.8 | – | + | + | – | – |
6b | F | 37 | 33 | GT | c.648G > T | c.648G > T | + | + | + | + | −3.4 | + | + | + | – | – |
7 | M | 36 | 26 | Hp | c.648G > T | c.648G > T | + | + | + | + | −3.7 | + | + | + | – | – |
8c | M | 34.1 | 13.7 | Hp, GR | c.648G > T | c.648G > T | + | – | – | – | −1.7 | + | – | – | – | – |
9 | M | 28.7 | 14.8 | Hp, GR | c.648G > T | c.648G > T | + | + | + | + | −5.0 | + | – | – | – | – |
10d | F | 26.2 | 8.9 | Hp, GR | c.648G > T | c.648G > T | + | + | + | – | −2.2 | – | – | – | – | – |
11 | F | 24.1 | 4.3 | Hp, GR | c.648G > T | c.648G > T | + | + | + | + | −1.2 | + | + | – | – | – |
12d | M | 21.8 | 5.8 | Hp, GR | c.648G > T | c.648G > T | + | – | + | + | −2.8 | – | – | – | – | – |
13 | M | 21.4 | 20.8 | Hp, GR | c.648G > T | c.648G > T | + | + | + | + | −7.5 | – | + | – | – | – |
14c | F | 20.8 | 1.8 | FS | c.648G > T | c.648G > T | + | + | + | – | 0.4 | + | + | – | – | – |
15 | F | 19.1 | 7 | Hp | c.648G > T | c.648G > T | + | – | – | – | 1.3 | – | + | – | – | – |
16 | M | 18.7 | 6.1 | Hp | c.648G > T | c.648G > T | + | – | – | + | −2.3 | + | + | – | – | – |
17 | F | 18.4 | 2 | Hp | c.648G > T | c.648G > T | + | – | – | – | 0.4 | – | – | – | – | – |
18 | M | 18 | 13 | Hp | c.648G > T | c.648G > T | + | – | – | – | −5.1 | – | – | – | – | – |
19 | M | 17.1 | 3 | Hp | c.648G > T | c.648G > T | + | + | – | + | −3.9 | – | – | – | – | – |
20 | M | 33.3 | 8 | Hp, HM | c.648G > T | p.G122D | + | + | + | – | −1.8 | + | + | + | – | – |
21e | F | 27.5 | 20.3 | Hp, HM | c.648G > T | p.G122D | + | + | – | + | 0.4 | – | – | – | – | + |
22e | M | 22.8 | 16 | FS | c.648G > T | p.G122D | + | – | + | – | −0.4 | – | – | – | – | – |
23 | M | 24.1 | 2.1 | Hp | c.648G > T | p.G222R | + | – | – | – | −2.2 | + | + | – | – | – |
24 | M | 19.5 | 2.5 | Hp | c.648G > T | p.G222R | + | + | – | + | −0.9 | – | – | – | – | – |
25 | F | 30 | 17 | Hp | c.648G > T | p.S326P | + | + | + | + | −1.7 | + | + | – | + | – |
26 | F | 17 | 4.3 | Hp | c.648G > T | p.F51S | + | – | – | – | −0.8 | – | – | – | – | – |