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Autosomal dominant hyperinsulinism due to SUR1 deficiency
What is Autosomal dominant hyperinsulinism due to SUR1 deficiency?
A form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic episodes that are usually mild, escaping detection during infancy, and usually present 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).
Other condition names
Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency