title: The molecular basis for familial persistent hyperinsulinemic hypoglycemia of infancy.
abstract: Familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI) is a glucose metabolism disorder in neonates characterized by inappropriate insulin secretion in the presence of profound hypoglycemia. Loss of 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 and candidate gene strategy used to identify the SUR gene as the one responsible for PHHI. Potential roles for SUR in other disorders of insulin secretion remains to be determined.
authors.affiliation: Department of Medical Specialties, University of Texas, Houston 77030, USA.
authors.forename: P M
authors.initials: PM
authors.lastname: Thomas
authors.forename: G J
authors.initials: GJ
authors.lastname: Cote
authors.forename: N
authors.initials: N
authors.lastname: Wohllk
authors.forename: P M
authors.initials: PM
authors.lastname: Mathew
authors.forename: R F
authors.initials: RF
authors.lastname: Gagel
mesh_terms: D018528:ATP-Binding Cassette Transporters; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D006946:Hyperinsulinism / Q000235:genetics* / Q000378:metabolism; D007003:Hypoglycemia / Q000235:genetics* / Q000378:metabolism; D007223:Infant; D007328:Insulin / Q000378:metabolism; D000078790:Insulin Secretion; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D015221:Potassium Channels / Q000235:genetics; D024661:Potassium Channels, Inwardly Rectifying; D011955:Receptors, Drug / Q000235:genetics; D015183:Restriction Mapping; D013453:Sulfonylurea Compounds / Q000378:metabolism; D064233:Sulfonylurea Receptors
chemical_list: D018528:ATP-Binding Cassette Transporters; D007328:Insulin; D015221:Potassium Channels; D024661:Potassium Channels, Inwardly Rectifying; D011955:Receptors, Drug; D013453:Sulfonylurea Compounds; D064233:Sulfonylurea Receptors