TABLE 3.
Comparison of clinical and biochemical features of published glucokinase activating mutants associated with hyperinsulinism
| V455M | A456V | T65I | W99R | Y214C | G68V | S64Y | V452L | ins454A | W99L | M197I | |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Number of families | 1 | 2 | 1 | 1 | — | 1 | — | — | — | — | — |
| de novo case subjects | — | — | — | 1 | 1 | — | 1 | 1 | 1 | 1 | 1 |
| Total cases (n = 29) | 5 | 5 | 2 | 3 | 1 | 8 | 1 | 1 | 1 | 1 | 1 |
| Birth weight (kg) | 2.9–4.1 | 2.4–3.8 | 3.1 | 3.1, 4.0 | 4.4 | 1.9–3.7 | 4.3 | 5.9 | 4.9 | 3.2 | 4.9 |
| Age at diagnosis | |||||||||||
| Neonatal (n = 8) | — | 1 | 1 | 2 | 1 | — | 1 | 1 | 1 | — | — |
| Childhood (n = 7) | 2 | 1 | — | — | — | 3 | — | — | — | 1 | — |
| Adolescence (n = 4) | 1 | — | — | — | — | 2 | — | — | — | — | 1 |
| Adulthood (n = 10) | 2 | 3 | 1 | 1 | — | 3 | — | — | — | — | — |
| Severity of hypoglycemia | |||||||||||
| Mild or untreated (n = 12) | 1 | 3 | — | 1 | — | 7 | — | — | — | — | — |
| Diazoxide treated (n = 13) | 4 | 2 | 1 | 2 | — | — | 1 | 1 | — | 1 | 1 |
| Diazoxide and octreotide treated (n = 1) | — | — | — | — | — | 1 | — | — | — | — | — |
| Required surgery (n = 3) | — | — | 1 | — | 1 | — | — | — | 1 | — | — |
| Pretreatment plasma glucose (normal > 3.9 mmol/l) | 1.3–2.5 | 2.1–3.5 | 2.2–3.0 | 2.0–3.5, 2.1 | 0.1–2.6 | 1.6–3.3 | 2.0 | 2.6–3.3 | 1.7–2.8 | 2.6–3.7 | 2.6–3.6 |
| Response to diazoxide | Yes | Yes | Yes | Yes | No | Yes | Yes | Yes | No | Partial | Yes |
| S0.5(normal = 7.55 mmol/l)* | 3.0 | 2.0 | 1.8 | 4.5 | 1.2 | 1.9 | 1.5 | 2.6 | 1.1 | 2.9 | 2.6 |
| Relative activity index* | 5.2 | 17 | 3.1 | 4.1 | 130 | 16 | 22 | 11 | 26 | 8.9 | 3.1 |
| Original clinical report reference no. | 12 | 13 | 14 | 15 | 16 | 17 | 18 | 19 | — | — | — |
*Values from published reports.