Genetic Analysis of Japanese Patients With Persistent Hyperinsulinemic Hypoglycemia Of Infancy Nucleotide-Binding Fold-2 Mutation Impairs Cooperative Binding of Adenine Nucleotides to Sulfonylurea Receptor 1

摘要

To elucidate the genetic etiology of persistent hyperin- sulinemic hypoglycemia of infany (PHHI) in the Japan- ese population, we conducted a polymerase chain reac- tion-single-strand conformation polymorphism analy- sis of the usfonlyurea receptor 1 (SUR1) and Kir6.2 genes in 17 Japanese PHHI patients, including a pair of siblings from a consanuineous family. We also analyzed the glutamate dehydrogenase gene for the exons encod- ing an allosteric regulatory domain of the enzyme.