TABLE 3

Comparison of clinical and biochemical features of published glucokinase activating mutants associated with hyperinsulinism

V455MA456VT65IW99RY214CG68VS64YV452Lins454AW99LM197I
Number of families12111
de novo case subjects1111111
Total cases (n = 29)55231811111
Birth weight (kg)2.9–4.12.4–3.83.13.1, 4.04.41.9–3.74.35.94.93.24.9
Age at diagnosis
    Neonatal (n = 8)1121111
    Childhood (n = 7)2131
    Adolescence (n = 4)121
    Adulthood (n = 10)23113
Severity of hypoglycemia
    Mild or untreated (n = 12)1317
    Diazoxide treated (n = 13)42121111
    Diazoxide and octreotide treated (n = 1)1
    Required surgery (n = 3)111
Pretreatment plasma glucose (normal > 3.9 mmol/l)1.3–2.52.1–3.52.2–3.02.0–3.5, 2.10.1–2.61.6–3.32.02.6–3.31.7–2.82.6–3.72.6–3.6
Response to diazoxideYesYesYesYesNoYesYesYesNoPartialYes
S0.5(normal = 7.55 mmol/l)*3.02.01.84.51.21.91.52.61.12.92.6
Relative activity index*5.2173.14.1130162211268.93.1
Original clinical report reference no.1213141516171819
  • *Values from published reports.