Conditions / Genetic
familial hyperinsulinemic hypoglycemia 3
info · Genetic
A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of a reduced threshold for insulin release and hypoglycemia induced by fasting or protein rich meals that has_material_basis_in activating mutations in the GCK gene on chromosome 7
A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of a reduced threshold for insulin release and hypoglycemia induced by fasting or protein rich meals that has_material_basis_in activating mutations in the GCK gene on chromosome 7p13.
Signs and symptoms
- Hyperinsulinemic hypoglycemia
- Intellectual disability
- Hypoglycemic coma
- Hypoglycemic seizures
- Diabetes mellitus
Also known as: HHF3; hyperinsulinemic hypoglycemia due to glucokinase deficiency; hyperinsulinism due to glucokinase deficiency