autosomal dominant hyperinsulinism due to SUR1 deficiency
Autosomal dominant hyperinsulinism due to SUR1 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy and usually a good clinical response to diazoxide. Autosomal dominant hyperinsulinism due to SUR1 deficiency usually has a milder phenotype when compared to that resulting from recessive K-ATP mutations (recessive forms of Diazoxide-resistant hyperinsulinism).
MONDO:0015624
diazoxide-sensitive diffuse hyperinsulinism
is_a
autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency
exact