Hyperinsulinism due to INSR deficiency
Hyperinsulinism due to INSR deficiency
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.
Also known as hyperinsulinemic hypoglycemia due to INSR deficiency, hyperinsulinemic hypoglycemia due to insulin receptor deficiency, hyperinsulinemic hypoglycemia, familial, type 5 — per MONDO