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Hyperinsulinism due to INSR deficiency

Synonym(s) Hyperinsulinemic hypoglycemia due to INSR deficiency
Hyperinsulinemic hypoglycemia due to insulin receptor deficiency
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Age of onset All ages
  • E16.1
MeSH -
MedDRA -


Disease definition

Hyperinsulinemic hypoglycemia due to INSR deficiency is a very rare autosomal dominant form of familial hyperinsulinism characterized clinically in the single reported family by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset.

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