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Hyperinsulinism due to glucokinase deficiency

Disease definition

Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism (see this term), caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae.

ORPHA:79299

  • Synonym(s):
    • Hyperinsulinemic hypoglycemia due to glucokinase deficiency
  • Prevalence: -
  • Inheritance: Autosomal dominant 
  • Age of onset: -
  • ICD-10: E16.1
  • OMIM: 602485
  • UMLS: -
  • MeSH: -
  • GARD: 2818
  • MedDRA: -

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