/hyperinsulinism-hyperammonemia syndrome

hyperinsulinism-hyperammonemia syndrome

Rare Disease

MONDO:0011717

Also Known As

GDH hyperinsulinismGLUD1 hyperinsulinismglutamate dehydrogenase 1 hyperinsulinismhi/HA syndromehyperinsulinemic hypoglycemia, familial, type 6hyperinsulinism-hyperammonemia syndromehyperinsulinism/hyperammonemia syndromeHA/hi syndromeHHF6hyperinsulinemic hypoglycemia familial 6hyperinsulinemic hypoglycemia, familial, 6hyperinsulinism hyperammonemia syndrome

Definition

Hyperinsulinism-hyperammonemia syndrome (HIHA) is a frequent form of diazoxide-sensitive diffuse hyperinsulinism, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycemia may also occur.