hyperinsulinism-hyperammonemia syndrome
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.
MONDO:0015624
diazoxide-sensitive diffuse hyperinsulinism
is_a
MONDO:0800153
urea cycle disorder or inherited hyperammonemia
is_a
GDH hyperinsulinism
exact
GLUD1 hyperinsulinism
exact
HA/hi syndrome
related
HHF6
related
glutamate dehydrogenase 1 hyperinsulinism
exact
hi/HA syndrome
exact
hyperinsulinemic hypoglycemia familial 6
related
hyperinsulinemic hypoglycemia, familial, 6
related
hyperinsulinemic hypoglycemia, familial, type 6
exact
hyperinsulinism hyperammonemia syndrome
related
hyperinsulinism-hyperammonemia syndrome
exact
hyperinsulinism/hyperammonemia syndrome
exact
SPCC622.12c SPCC132.04c