|
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
|
- M: male, F: female. Reference values: glucose (> 3.8 mmol/L); lactate (0.5–2.2 mmol/L); insulin (1.4 -14 µUI/mL); total cholesterol (TC, < 200 mg/dL); HDL cholesterol (> 35 mg/dL); triglycerides (TG, < 150 mg/dL) and uric acid (3.4 -7 mg/dL). In bold, abnormal values
