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Congenital glucokinase-related hyperinsulinism

Disease definition

A form of diffuse hyperinsulinism due to glucokinase hyperactivity and characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of hypoglycemia induced by fasting and glucose rich meals. The clinical spectrum can range from mild and intermediate cases that respond well to dietary modifications and medical management with diazoxide to severe cases that are unresponsive to diazoxide. The potential development of type 2 diabetes with age is another notable feature.

ORPHA:79299

Classification level: Disorder
  • Synonym(s):
    • Glucokinase-related hyperinsulinemic hypoglycemia
  • Prevalence: -
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal, Infancy
  • ICD-10: E16.1
  • OMIM: 602485
  • UMLS: C4274019
  • MeSH: -
  • GARD: 2818
  • MedDRA: -

  A summary on this disease is available in Español (2022) Nederlands (2022) Italiano (2015)

Detailed information

Disease review articles

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.