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Table 2 Patients with metabolic defects (MetD) and patients with undetected defects

From: Diagnosis of congenital Hyperinsulinism can occur not only in infancy but also in later age: a new flow chart from a single center experience

  Sex Genotype Family History Birth HY Onset Treatment Follow-up
Hypoglycaemia Diabetes (IFG/IGT) At Term LGA < 72 h Postneonatal Dx responsiveness Surgery DM Obesity Neurological Impairment Duration (years)
1 F GCK
c.1363G > T; (p.V455S)
+ + NR + + 3
2 M HADH recessive c.706C > T; (p.R236Ter) + + 4
3 M GLUD1
c.978G > A; (p.R269H)
+ + + + + 17
4 F GLUD1
c.820C > T; (p.R276C)
+ + + + 16
5 M Undetected defect + + + + + 10
6 F Undetected defect + + + + + 18
7 M Undetected defect + + + + 17
8 M Undetected defect + + + + + 4
9 M Undetected defect + + + + 8
10 M Undetected defect + + + + 20
  1. NR not reported