Table 1 Biochemical indicators of the proband suggest a probable diagnosis of GSD-Ia
Parameter | Tested value | Reference range | Result |
|---|---|---|---|
Glucose (mmol/L) | 0.17↓ | 3.6–6.1 | Abnormal |
CO2 (mmol/L) | 7.1↓ | 19–33 | Abnormal |
Sodium (mmol/L) | 132.7 | 135–153 |  |
Chlorinum (mmol/L) | 89.2↓ | 96–108 | Abnormal |
Calcium (mmol/L) | 2.65 | 2–2.6 |  |
Total bile acid (μmol/L) | 16.7↑ | 0–12 | Abnormal |
ALT (IU/L) | 257.4↑ | 7–56 | Abnormal |
AST (IU/L) | 357.6↑ | 0–40 | Abnormal |
Triglyceride (mmol/L) | 5.74↑ | 0.52–1.56 | Abnormal |
HDL (mmol/L) | 2.01↑ | 0.88–1.76 | Abnormal |