Table 2 Reports on Chinese patients with GSD IXa
Patients | Base change | Exon | Onset age | Diagnosis age | Elevated liver transaminase levels | Liver enlargement | Short stature | Hypoglycemia | Elevated of lactic acid | Hyperlipidemia | Delayed motor developmental | Liver biopsy |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
Reports 1 [7] | ||||||||||||
1 | c.133C > T | 2 | 3 | 7 | + | + | + | + | + | – | – | / |
2 | c.134G > A | 2 | 2 | 3.8 | + | + | – | + | + | – | – | / |
3 | c.237 + 1 G > T | 2 | 2 | 9 | + | + | + | – | + | + | – | + |
4 | c.338A > G | 4 | 2 | 15 | + | + | – | – | / | – | – | + |
5 | c.392G > A | 4 | 6 | 17 | + | + | – | – | / | – | – | + |
6 | c.407A > T | 4 | 1 | 2.5 | + | + | + | – | + | – | – | / |
7 | c.538G > A | 6 | 5 | 7.1 | + | – | + | – | – | + | – | / |
8 | c.884G > A | 9 | 0.5 | 28 | – | + | – | – | – | – | – | – |
9 | c.884G > A | 9 | 10.5 | 11 | + | – | – | + | – | + | – | + |
10 | c.884G > A | 9 | 1.8 | 8.9 | + | + | + | + | – | – | – | / |
11 | c.889G > A | 9 | 1 | 23 | + | + | – | – | / | + | – | + |
12 | c.1498C > T | 15 | 1 | 2.5 | + | + | – | – | – | – | – | / |
13 | c.1925C > G | 18 | 0.8 | 2 | + | + | – | + | – | – | – | / |
14 | c.2746C > T | 25 | 0.7 | 7.8 | + | + | – | + | / | + | – | / |
15 | c.2746C > T | 25 | 3 | 9 | + | + | – | + | – | – | – | + |
16 | c.2726_2727delTT | 25 | 0.3 | 10 | + | + | + | – | – | – | – | + |
17 | c.3377C > A | 32 | 0.8 | 1.5 | + | + | + | + | – | + | – | + |
Reports 2 [8] | ||||||||||||
18 | – | 3.5 | 4.5 | + | + | + | – | / | + | – | + | |
19 | – | / | 1.25 | + | + | + | – | / | + | – | + | |
Reports 3 [9] | ||||||||||||
20 | c.136delG | 2 | 0.7 | 3 | + | + | – | – | / | – | – | + |
21 | c.87029G > A | 30 | 1.5 | 10 | + | + | – | – | / | + | + | + |