Table 1.
Results of the leucine tolerance test performed on the eight patients with HH due to a mutation inHADH
| Subject | Age at presentation | Birth weight SDS | HADH Mutation | Age at testing (years) | Baseline BG (mmol/l) | Nadir BG (mmol/l) | Baseline insulin (mU/l) | Peak insulin (mU/l) | Time to nadir (mins) | Reference |
|---|---|---|---|---|---|---|---|---|---|---|
| Pt 1 |
16 weeks |
+0.25 |
P258L |
10.5 |
4.4 |
2.7 |
9.5 |
45 |
45 |
8 |
| Pt 2 |
16 weeks |
-1.1 |
IVS6-2a>g |
10 |
4.4 |
1.7 |
6.5 |
63.8 |
30 |
9 |
| Pt 3 |
16 weeks |
-0.11 |
M188V |
4.2 |
5.1 |
2.7 |
8.6 |
31.7 |
30 |
4 |
| Pt 4 |
5 days |
+1.69 |
R236X |
2.1 |
4.8 |
2.8 |
12.9 |
25.12 |
30 |
10 |
| Pt 5 |
1 week |
+1.23 |
R236X |
6.6 |
5.5 |
2.2 |
<2 |
13.6 |
45 |
10 |
| Pt 6 |
16 weeks |
-0.71 |
K136E |
3.2 |
6.6 |
3.0 |
<2 |
4.8 |
90 |
10 |
| Pt 7 |
16 weeks |
-1.85 |
Q163X |
7.8 |
5.0 |
2.7 |
<2 |
5.6 |
90 |
10 |
| Pt 8 |
2 weeks |
+1.16 |
R236X |
1.3 |
4.8 |
3.0 |
2.2 |
9.2 |
60 |
10 |
| Pt 9 | 2 days | +0.93 | Ex1del/Ex1del | 2 | 4.2 | 2.8 | <2 | 23.9 | 60 | 10 |