Table 2.
Initial laboratory and imaging features of patients.
| ID | Type | Glycose mg/dL |
AST U/L |
ALT IU/L |
CPK U/L |
LDL mg/dL |
HDL mg/dL |
Cholesterol mg/dL |
Triglyceride mg/dL |
AFP ng/mL |
Lactate mg/dL |
Ketone | Ultrasound and/or ECHO |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P1 | GSD0 | 37 | 26 | 16 | 55 | 95 | 61 | 168 | 68 | 1 | 30 | + | normal |
| P2 | GSD0 | 35 | 30 | 18 | 68 | 79 | 68 | 172 | 56 | 1 | 26 | ++ | normal |
| P3 | GSD0 | 49 | 16 | 30 | 67 | 58 | 65 | 136 | 64 | 1 | 11 | + | normal |
| P4 | GSDIa | 12 | 134 | 73 | 57 | 126 | 27 | 323 | 2007 | 2 | 65 | + | grade 1 steatosis |
| P5 | GSDIa | 14 | 65 | 71 | 49 | 136 | 41 | 213 | 546 | 2 | 40 | ++ | hepatomegaly |
| P6 | GSDIa | 9 | 282 | 133 | 67 | 149 | 23 | 341 | 1158 | 1 | 53 | +++ | heterogeneity in liver and kidney |
| P7 | GSDIa | 16 | 257 | 305 | 97 | 171 | 13 | 304 | 1200 | 2 | 97 | + | heterogeneity in liver and kidney |
| P8 | GSDIa | 73 | 197 | 187 | 67 | 184 | 44 | 284 | 944 | 1.5 | 35 | neg | hepatomegaly, heterogenity |
| P9 | GSDIb | 20 | 62 | 45 | 76 | 94 | 19 | 167 | 267 | 1.2 | 26 | neg | grade 1 steatosis |
| P10 | GSD III | 34 | 226 | 327 | 1760 | 138 | 12 | 225 | 370 | 1 | 43 | neg | grade 2 steatosis hepatomegaly |
| P11 | GSDIII | 71 | 705 | 867 | 867 | 186 | 30 | 217 | 479 | 4.4 | 42 | neg | grade 1 steatosis, hepatomegaly |
| P12 | GSDIII | 23 | 160 | 123 | 424 | 145 | 8 | 234 | 471 | 41 | 25 | + | grade 1 heterogeneity, hepatomegaly |
| P13 | GSDIV | 74 | 317 | 137 | 54 | 96 | 28 | 139 | 75 | 13 | 12 | neg | nodular heterogeneous liver |
| P14 | GSDIV | 65 | 158 | 14 | 57 | 104 | 46 | 172 | 106 | 18 | 13 | neg | nodular heterogeneous in liver |
| P15 | GSDV | 86 | 50 | 29 | 556 | 78 | 45 | 139 | 69 | 0.8 | 15 | neg | normal |
| P16 | GSDV | 100 | 33 | 18 | 318 | 95 | 38 | 178 | 69 | − | − | neg | normal |
| P17 | GSDVI | 74 | 545 | 444 | 87 | 104 | 22 | 178 | 241 | 2 | 25 | + | hepatomegaly |
| P18 | GSDVI | 48 | 193 | 78 | 69 | 72 | 29 | 124 | 115 | 1.9 | 26 | ++ | hepatomegaly |
| P19 | GSDVI | 39 | 60 | 64 | 98 | 94 | 36 | 158 | 138 | 2.7 | 31 | + | hepatomegaly |
| P20 | GSDVI | 59 | 74 | 78 | 89 | 112 | 39 | 125 | 67 | 1.7 | 12 | + | grade 1 steatosis, hepatomegaly |
| P21 | GSDIXa | 45 | 225 | 189 | 356 | 153 | 17 | 224 | 276 | 1 | 12 | + | hepatomegaly, grade 1 steatosis |
| P22 | GSDIXa | 56 | 199 | 111 | 525 | 107 | 33 | 159 | 98 | 2 | 38 | ++ | hepatomegaly |
| P23 | GSDIXa | 65 | 86 | 98 | 215 | 164 | 45 | 198 | 218 | 1.2 | 15 | neg | hepatomagaly, heterogenity, hypertophic CMP |
| P24 | GSDIXa | 75 | 68 | 64 | 218 | 120 | 72 | 208 | 71 | − | 26 | neg | hepatomagaly |
| P25 | GSDIXb | 78 | 74 | 50 | 562 | 89 | 61 | 169 | 76 | 5 | 11 | ++ | grade 1 heterogeneity |
| P26 | GSDIXd | 67 | 80 | 84 | 292 | 76 | 48 | 138 | 67 | 1 | 9 | +++ | hepatomegaly |
Abbreviations: AST: Aspartate transaminase, ALT: Alanine transaminase, CPK: Creatine phosphokinase, LDL: Low-density lipoprotein-cholesterol, HDL: High-density lipoprotein-cholesterol, AFP: Alpha-fetoprotein, ECHO: echocardiography. “+” (plus) means presence of the finding, “−” (minus) means absence of the finding.