Table 1 Summary examinations of glycogen storage disease type Ib patients at the first visit
Patient | Sex | Age of onset (months) | Age of diagnosis (months) | Chief complaint | Height (SD) | Liver size (cm) | Mutations | GLU (mmol/L) | LAC (mmol/L) | ALT (U/L) | AST (U/L) | TG (mmol/L) | UA (mmol/L) | NEU (109/L) | Hb (g/L) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | M | 7 | 36 | Hepatomegaly | ND | 12 | c.446G > A/ c.446G > A | 1.60 | 6.20 | 53 | 69 | 8.86 | ND | 1.21 | 93 |
2 | M | 15 | 15 | Recurrent infection | -3.45 | 10 | c.446G > A/ c.446G > A | 3.05 | 19.60 | 1100 | 406 | 5.65 | 568 | 1.68 | 94 |
3 | F | 12 | 36 | Growth retardation Hepatomegaly | -4.01 | 4 | c.572 C > T/ c.870 + 5G > A | 1.30 | 10.40 | 363 | 485 | 8.66 | 727 | 0.51 | 114 |
4 | F | 0 | 3 | Hypoglycemia | ND | 9 | c.446G > A/ c.446G > A | 2.00 | 4.40 | 192 | 409 | 14.51 | 462 | 0.69 | 97 |
5 | M | 2 | 2 | Recurrent infection | ND | 6 | c.446G > A/ c.446G > A | 3.50 | 3.40 | 452 | 1826 | 6.15 | 1059 | 0.30 | 102 |
6 a | M | 0 | 4 | Recurrent infection | -0.26 | 10 | c.446G > A/ c.959dupT | 5.00 | 12.20 | 24 | 90 | 5.36 | 268 | 1.11 | 77 |
7 | F | 7 | 7 | Polypnea for lactic acid | -2.22 | 10 | c.446G > A/ c.446G > A | 1.90 | 10.10 | 148 | 238 | 13.01 | 786 | 1.03 | 84 |
8 | M | 6 | 6 | Recurrent infection Transaminase elevation | -1.83 | 6 | c.343G > A/ c.1042_1043delCT | 1.10 | 8.30 | 39 | 65 | 8.72 | 228 | 0.49 | 97 |
9 | M | 11 | 11 | Hepatomegaly | -1.97 | 5 | c.446G > A/ c.446G > A | 2.70 | 3.00 | 220 | 232 | ND | 735 | 0.68 | 95 |
10 | F | 3 | 3 | Recurrent infection | -0.60 | 6 | c.446G > A/ c.454G > C | 0.60 | 6.40 | 148 | 159 | 5.35 | 480 | 0.59 | 90 |
11a | F | 2 | 3 | Recurrent infection | ND | 5 | c.446G > A/ c.446G > A | 4.00 | 4.52 | 37 | 264 | ND | 917 | 1.52 | 92 |
12 | F | 0 | 7 | Abdominal distension Recurrent infection | -2.20 | 10 | c.446G > A/ c.446G > A | 1.90 | 8.80 | 542 | 1951 | 14.24 | 170 | 0.56 | 90 |
13 a | F | 3 | 21 | Recurrent infection | ND | 12 | c.446G > A/ c.446G > A | 2.35 | 11.00 | 79 | 77 | 6.21 | 793 | 0.74 | 98 |
14 | F | 8 | 8 | Abdominal distension | -2.71 | 13 | c.446G > A/ c.359dupC | 1.00 | 9.80 | 162 | 300 | 4.74 | 511 | 0.30 | 102 |
15 | F | 6 | 6 | Abdominal distension Recurrent infection | -1.35 | 10 | c.446G > A/ c.446G > A | 4.27 | 13.00 | 172 | 269 | 11.62 | 393 | 1.38 | 112 |
16 | F | 4 | 6 | Polypnea for lactic acid | -0.67 | 10 | c.82 C > T/ c.359delC | 2.30 | 4.10 | 80 | 121 | 1.84 | 446 | 0.52 | 104 |
17 | F | 6 | 66 | Abdominal distension Recurrent infection | -2.09 | 5 | c.446G > A/ c.446G > A | 4.50 | 2.00 | 33 | 40 | 3.79 | 660 | 0.65 | 84 |
18 | M | 7 | 8 | Abdominal distension | -2.92 | 5 | c.446G > A/ c.123_124dupGA | 2.23 | 11.20 | 206 | 286 | 20.37 | 361 | 1.96 | 98 |
19 | M | 4 | 7 | Recurrent infection | -1.77 | 6 | c.446G > A/ c.343G > A | 1.70 | 14.80 | 95 | 104 | 4.70 | 323 | 1.42 | 92 |
20 | M | 0 | 47 | Abdominal distension | -2.33 | 10 | c.82 C > T/ c.1117G > A | 1.92 | 10.40 | 39 | 54 | 9.20 | 609 | 1.04 | 114 |
21 a | M | 4 | 4 | Polypnea for lactic acid | -0.51 | 11 | c.446G > A/ c.1063G > T | 0.50 | 4.20 | 339 | 1456 | 1.83 | 370 | 0.60 | 102 |
22 | M | 12 | 14 | Abdominal distension | -3.42 | 8 | c.446G > A/ c.446G > A | 0.70 | 3.10 | 66 | 88 | 6.77 | 292 | 1.09 | 110 |
23 | M | 3 | 3 | Polypnea for lactic acid | -1.13 | 5 | c.446G > A/ c.446G > A | 1.60 | 6.20 | 76 | 88 | 3.51 | 157 | 2.09 | 82 |
24 | M | 12 | 36 | Abdominal distension | -1.16 | 13 | c.572 C > T/ c.898 C > T | 4.84 | 3.20 | 38 | 42 | 4.38 | 513 | 0.71 | 101 |
25 a | M | 8 | 10 | Abdominal distension Hypoglycemia | -2.30 | 8.5 | c.1210delT/ exon5-11 del | 2.90 | 13.60 | 150 | 344 | 2.09 | 517 | 0.76 | 102 |
26 | F | 6 | 8 | Polypnea for lactic acid | -2.09 | 9 | c.446G > A/ c.446G > A | 4.55 | 4.90 | 52 | 68 | 6.26 | 343 | 0.36 | 78 |
27 | F | 2 | 3 | Polypnea for lactic acid Recurrent infection | 0.52 | 6 | c.1042_1043delCT/c.1123 + 1G > T | 1.43 | 17.20 | 54 | 58 | 6.67 | 842 | 0.62 | 72 |
28 | F | 12 | 31 | Abdominal distension Growth retardation | -4.22 | 10.5 | c.446G > A/ c.870 + 5G > A | 1.90 | 9.60 | 125 | 99 | 9.03 | 553 | 0.76 | 119 |
29 | M | 0 | 7 | Polypnea for lactic acid | -2.30 | 11 | c.446G > A/ c.59G > A | 3.78 | 4.07 | 37 | 62 | 3.62 | 237 | 0.48 | 106 |
30 | F | 0 | 2 | Recurrent infection Abdominal distension | -1.62 | 3 | c.446G > A/ c.446G > A | 1.96 | 9.14 | 116 | 216 | 5.01 | 152 | 0.65 | 82 |
31 | F | 12 | 24 | Hepatomegaly | -1.16 | 3 | c.446G > A/ c.572 C > T | 2.70 | 11.40 | 28 | 27 | 4.75 | 459 | 0.64 | 105 |
32 | M | 1 | 16 | Recurrent infection Abdominal distension | -2.28 | 10.5 | c.446G > A/ c.870 + 3delG | 1.77 | 15.45 | 148 | 135 | 6.10 | 603 | 1.21 | 103 |
33 | M | 1 | 5 | Abdominal distension | -1.49 | 11 | c.446G > A/ c.446G > A | 1.38 | 11.60 | 40 | 157 | 5.28 | 775 | 0.27 | 90 |
34 | F | 5 | 10 | Recurrent infection Hepatomegaly | -3.47 | 5 | c.446G > A/ c.572 C > T | 0.53 | 5.10 | 251 | 349 | 6.58 | 275 | 0.77 | 112 |
35 | M | 5 | 16 | Hypoglycemia Hepatomegaly | -2.17 | 8 | c.446G > A/ c.446G > A | 4.84 | 3.62 | 21 | 30 | 1.94 | 277 | 1.20 | 108 |
Median | 5.0 | 8.0 | Â | -2.09 | 9.0 | Â | 1.96 | 8.80 | 95 | 135 | 6.10 | 471 | 0.71 | 98 | |
Percentile (25%,75%) | 2.0,7.5 | 4.5,16.0 | Â | -1.21, -2.32 | 5.5, 10.3 | Â | 1.52, 3.28 | 4.30, 11.30 | 40,182 | 69,293 | 4.70,8.72 | 300,647 | 0.58,1.16 | 90,105 | |
Reference |  |  |  |  |  |  | 4.10–5.90 | 0.90–1.70 | 7–50 | 5–60 | 0.23–1.70 | 90–420 | 2.00-7.20 |  | |