title: Genetics of congenital hyperinsulinemic hypoglycemia.
abstract: A genetic diagnosis is now possible for approximately 45%-55% of patients with hyperinsulinemic hypoglycemia. Understanding the genetic etiology of the disease in these patients is clinically important because a genetic diagnosis will provide information on prognosis, recurrence risk, and importantly may also guide clinical management. The aim of this review is to provide an outline of the 7 different molecular mechanisms underlying this heterogeneous disease and to demonstrate that the clinical phenotype can act as a useful guide when prioritizing the order of genetic testing.
authors.affiliation: Institute of Biomedical and Clinical Science, Peninsula Medical School, University of Exeter, United Kingdom.
authors.forename: Sarah E
authors.initials: SE
authors.lastname: Flanagan
authors.forename: Ritika R
authors.initials: RR
authors.lastname: Kapoor
authors.forename: Khalid
authors.initials: K
authors.lastname: Hussain
mesh_terms: D015094:3-Hydroxyacyl CoA Dehydrogenases / Q000235:genetics; D018528:ATP-Binding Cassette Transporters / Q000235:genetics; D044903:Congenital Hyperinsulinism / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D003981:Diazoxide / Q000494:pharmacology; D000081410:Germinal Center Kinases; D005969:Glutamate Dehydrogenase / Q000235:genetics; D051557:Hepatocyte Nuclear Factor 4 / Q000235:genetics; D006801:Humans; D054086:KATP Channels / Q000235:genetics; D027501:Monocarboxylic Acid Transporters / Q000235:genetics; D009154:Mutation; D010641:Phenotype; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D011955:Receptors, Drug / Q000235:genetics; D064233:Sulfonylurea Receptors; D027981:Symporters / Q000235:genetics; D014665:Vasodilator Agents / Q000494:pharmacology; D000099233:Monocarboxylate Transport Protein 1; D000099161:Kcnj11 Channel
chemical_list: D015094:3-Hydroxyacyl CoA Dehydrogenases; D018528:ATP-Binding Cassette Transporters; D003981:Diazoxide; D000081410:Germinal Center Kinases; D005969:Glutamate Dehydrogenase; D051557:Hepatocyte Nuclear Factor 4; D054086:KATP Channels; D027501:Monocarboxylic Acid Transporters; D024661:Potassium Channels, Inwardly Rectifying; D017346:Protein Serine-Threonine Kinases; D011955:Receptors, Drug; D064233:Sulfonylurea Receptors; D027981:Symporters; D014665:Vasodilator Agents; D000099233:Monocarboxylate Transport Protein 1; D000099161:Kcnj11 Channel; C496592:HNF4A protein, human