Conditions / Genetic
familial hyperinsulinemic hypoglycemia 1
info · Genetic
A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has_material_basis_in mutation in the ABCC8 gene on chromosome 11p15.
Signs and symptoms
- Large for gestational age
- Pancreatic islet-cell hyperplasia
- Hyperinsulinemic hypoglycemia
- Hypoglycemic seizures
- Intellectual disability
- Hypoglycemic coma
Also known as: HHF1