Table 1 Genetic and biochemical profile of the GSD Ia patients enrolled in study (n = 11, baseline)
ID | Genotype | Gender (M/F) | Age (years) | Comorbidities | Body weight (Kg) | Height (cm) | BMI (kg/m2) | Starch-dosage 4/4 h (cm) | Glucose (mmol/L) | Lactic acid (mmol/L) | Insulin (UI/mL) | Uric acid (mg/dL) | TC(mg/dL) | HDL (mg/dL) | TG (mg/dL) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
A | c.[247C>T];[820G>A] | F | 24 | Adenomas, nephrolithiasis | 72.1 | 160 | 28.2 | 45 | 5.3 | 2.55 | 29.1 | 7.7 | 324 | 25 | 1997 |
B | c.[113A>T];[1039C>T] | F | 16 | – | 76.8 | 163 | 28.9 | 47 | 4.0 | 1.69 | 4.7 | 6.2 | 198 | 44 | 307 |
C | c. [247C>T];[247C>T] | F | 27 | Hepatomegaly, hepatic hypervascular nodule | 64.2 | 149 | 28.9 | 60 | 5.6 | 2.48 | 8.9 | 6.8 | 217 | 36 | 384 |
D | c.[113A>T];[1039C>T] | F | 16 | – | 71.9 | 166 | 26.1 | 61 | 6.1 | 1.74 | 30.8 | 7.8 | 156 | 23 | 344 |
E | c.[247C>T];[247 C>T] | M | 23 | Nephrolithiasis, hepatic steatosis | 78.6 | 164 | 29.2 | 65 | 6.2 | 1.79 | 34.0 | 6.9 | 170 | 22 | 383 |
F | c.[247C>T];[809G>T] | F | 21 | Adenomas | 59.0 | 153 | 25.2 | 68 | 5.3 | 1.38 | 16.7 | 6.5 | 144 | 35 | 122 |
G | c.[247C>T];[247C>T] | M | 16 | Nephrolithiasis | 82.0 | 169 | 28.7 | 73 | 4.1 | 3.10 | 5.7 | 8.2 | 196 | 21 | 484 |
H | c.[189G>C];[1039C>T] | M | 20 | – | 78.0 | 176 | 25.2 | 77 | 5.6 | 1.65 | 22.3 | 8.5 | 246 | 39 | 746 |
I | c.[1039C>T];[1039C>T] | M | 22 | – | 109.5 | 170 | 37.9 | 78 | 5.9 | 1.93 | 20.3 | 7.8 | 244 | 34 | 448 |
J | c.[113A>T];[323C>T] | M | 27 | – | 72.0 | 167 | 25.8 | 85 | 5.1 | 2.10 | 14.9 | 6.8 | 338 | 37 | 608 |
K | c.[247C>T];[563-3C>G] | M | 26 | Mild auditive loss | 75.2 | 170 | 26.0 | 90 | 5.7 | 3.51 | 43.2 | 10.0 | 242 | 30 | 553 |