THE MOLECULAR-BASIS FOR FAMILIAL PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY

Familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI) is a glucose metabolism disorder in neonates characterized by inappropri ate insulin secretion in the presence of profound hypoglycemia. Loss o f function mutations in the sulfonylurea receptor (SUR) gene recently have been implicated as a cause for familial PHHI in nine independent families. This review will describe the combined positional cloning an d candidate gene strategy used to identify the SUR gene as the one res ponsible for PHHI. Potential roles for SUR in other disorders of insul in secretion remains to be determined.