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diazoxide-resistant focal hyperinsulinism

Disease Summary
Associated Targets ()

Mondo Description Diazoxide-resistant focal hyperinsulism (DRFH) is a form of diazoxide-resistant hyperinsulinism characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to a focal adenomatous hyperplasia of pancreas, that is unresponsive to medical treatment with diazoxide, necessitating complete excision of the focal lesion.
Mondo Term and Equivalent IDs
MONDO:0019265:  diazoxide-resistant focal hyperinsulinism
Orphanet:79298: