Table 1 Results of the leucine tolerance test performed on the eight patients with HH due to a mutation in HADH
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 |