Conditions / Genetic
familial hyperinsulinemic hypoglycemia 5
info · Genetic
A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio that has_material_basis_in mutation in the INSR gene on chromosome 19p13.
Signs and symptoms
- Elevated circulating insulin:C-peptide ratio
- Fasting hyperinsulinemia
- Hyperinsulinemic hypoglycemia
- Hypoglycemic coma
- Hypoglycemic seizures
Also known as: HHF5; hyperinsulinemic hypoglycemia due to INSR deficiency; hyperinsulinemic hypoglycemia due to insulin receptor deficiency; hyperinsulinism due to INSR deficiency