Table 1.
Characteristics of the patients at recruitment.
| Children and Adolescents | Adults | ||||||||
|---|---|---|---|---|---|---|---|---|---|
| Total | GLUT1-DS | DRE | GLUT1-DS | ||||||
| (n = 25) | (n = 19) | (n = 6) | (n = 5) | ||||||
| Mean | Sd | Mean | Sd | Mean | sd | p Value | Mean | sd | |
| Age (years) | 8 | 4 | 8 | 4 | 6 | 5 | 0.487 | 34 | 16 |
| Nutritional status and body composition | |||||||||
| Weight (kg) | 27.5 | 20.4 | 28.2 | 19.0 | 25.4 | 24.5 | 0.573 | 63.5 | 9.1 |
| Weight z-score | −0.365 | 1.830 | −0.340 | 1.868 | 0.454 | 1.888 | 0.761 | - | - |
| Height (cm) | 120.0 | 29.1 | 122.5 | 27.8 | 111.9 | 34.3 | 0.751 | 168.4 | 6.9 |
| Height z-score | −0.603 | 1.177 | −0.508 | 1.162 | −0.825 | 1.294 | 0.424 | - | - |
| BMI (kg/m2) | 16.5 | 4.3 | 16.5 | 4.3 | 16.4 | 4.9 | 0.745 | 22.6 | 4.9 |
| BMI z-score | −0.587 | 1.839 | −0.423 | 1.353 | −1.141 | 2.685 | 0.283 | - | - |
| Body fat (%) | 20.8 | 7.0 | 21.0 | 6.2 | 34.4 | 11.6 | 0.773 | 27.2 | 12.8 |
| FMI (kg/m2) | 5.4 | 2.6 | 5.2 | 2.5 | 5.9 | 3.1 | 0.874 | - | - |
| SAT (cm) | 0.8 | 0.7 | 0.8 | 0.8 | 0.7 | 0.7 | 0.561 | 5.4 | 6.9 |
| VAT (cm) | 2.9 | 1.6 | 2.7 | 1.7 | 3.5 | 1.1 | 0.307 | 9.65 | 11.2 |
| Biochemical parameters | |||||||||
| Serum glucose (mg/dL) | 83 | 11 | 82 | 12 | 89 | 8 | 0.255 | 90 | 6 |
| Log-Insulin (mU/L) | 1.34 | 1.19 | 1.33 | 1.27 | 1.40 | 0.94 | 0.483 | 2.14 | 0.43 |
| Log-HOMA-IR | 0.24 | 1.25 | 0.27 | 1.35 | 0.64 | 0.11 | 0.473 | 0.63 | 0.45 |
| TC (mg/dL) | 170 | 37 | 174 | 39 | 154 | 20 | 0.255 | 201 | 14 |
| HDL-C (mg/dL) | 58 | 14 | 60 | 15 | 49 | 9 | 0.631 | 68 | 8 |
| LDL-C (mg/dL) | 99 | 33 | 100 | 36 | 98 | 16 | 0.269 | 121 | 12 |
| TG (mg/dL) | 61 | 18 | 60 | 17 | 66 | 25 | 0.743 | 57 | 14 |
| √ghrelin (pg/mL) | 19.74 | 6.44 | 17.98 | 5.91 | 25.3 | 4.930 | 0.895 | 17.84 | 2.83 |
| Log-leptin (pg/mL) | 8.58 | 1.16 | 8.60 | 1.20 | 8.49 | 1.12 | 0.796 | 9.26 | 1.30 |
| KBs (mmol/L) | 0.06 | 0.05 | 0.06 | 0.04 | 0.06 | 0.05 | 0.708 | 0.05 | 0.05 |
BMI = body mass index; FMI = fat mass index; SAT = abdominal subcutaneous fat; VAT= abdominal visceral fat; HOMA-IR = homeostatic model assessment-insulin resistance; TC = total cholesterol, LDL-C = low-density lipoprotein cholesterol; HDL-C = high-density lipoprotein cholesterol; TG = triglycerides; KBs = ketone bodies.