Congenital hyperinsulinism classification

Congenital hyperinsulinism Microchapters
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-In-Chief: Cafer Zorkun, M.D., Ph.D. [2]

Classification

• Transient neonatal hyperinsulinism
• Focal hyperinsulinism
  • Paternal SUR1 mutation with clonal loss of heterozygosity of 11p15
  • Paternal Kir6.2 mutation with clonal loss of heterozygosity of 11p15
• Diffuse hyperinsulinism
  • Autosomal recessive forms
    • SUR1 mutations
    • Kir6.2 mutations
  • Autosomal dominant forms
    • Glucokinase gain-of-function mutations
    • Hyperammonemic hyperinsulinism (glutamate dehydrogenase gain-of-function mutations)
    • Short chain acyl coenzyme A dehydrogenase deficiency
    • Carbohydrate-deficient glycoprotein syndrome
• Beckwith-Wiedemann syndrome (thought to be due to hyperinsulinism but pathophysiology still uncertain: 11p15 mutation or IGF2 excess)

References

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