Congenital hyperinsulinism

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

Congenital hyperinsulinism is a medical term referring to a variety of congenital disorders in which hypoglycemia is caused by excessive insulin secretion. Congenital forms of hyperinsulinemic hypoglycemia can be transient or persistent, mild or severe. These conditions are present at birth and most become apparent in early infancy. The severe forms can cause obvious problems in the first hour of life, but milder forms may not be detected until adult years.

Mild cases can be treated by frequent feedings, more severe cases can be controlled by medications that reduce insulin secretion or effects, and a minority of the most severe cases require surgical removal of part or most of the pancreas to protect the brain from damage due to recurrent hypoglycemia.

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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]

• 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)

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Genetic screening is now available within a useful time frame for some of the specific conditions.

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