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).

Also known as: autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency

0 clinical trials for this condition and its sub-types.