title: Advances in the diagnosis and management of hyperinsulinemic hypoglycemia.
abstract: Hyperinsulinemic hypoglycemia (HH) is a consequence of unregulated insulin secretion by pancreatic beta-cells and is a major cause of hypoglycemic brain injury and mental retardation. Congenital HH is caused by mutations in genes involved in regulation of insulin secretion, seven of which have been identified (ABCC8, KCNJ11, GLUD1, CGK, HADH, SLC16A1 and HNF4A). Severe forms of congenital HH are caused by mutations in ABCC8 and KCNJ11, which encode the two components of the pancreatic beta-cell ATP-sensitive potassium channel. Mutations in HNF4A, GLUD1, CGK, and HADH lead to transient or persistent HH, whereas mutations in SLC16A1 cause exercise-induced HH. Rapid genetic analysis combined with an understanding of the histological features (focal or diffuse disease) of congenital HH and the introduction of (18)F-L-3,4-dihydroxyphenylalanine PET-CT to guide laparoscopic surgery have totally transformed the clinical approach to this complex disease. Adult-onset HH is mostly caused by an insulinoma; however, it has also been reported to present as postprandial HH in patients with noninsulinoma pancreatogenous hypoglycemia syndrome, in those who have undergone gastric-bypass surgery for morbid obesity, and in those with mutations in the insulin-receptor gene.
authors.affiliation: Institute of Child Health, University College London and Great Ormond Street Hospital for Children National Health Services Trust, London, UK.
authors.forename: Ritika R
authors.initials: RR
authors.lastname: Kapoor
authors.forename: Chela
authors.initials: C
authors.lastname: James
authors.forename: Khalid
authors.initials: K
authors.lastname: Hussain
mesh_terms: D044903:Congenital Hyperinsulinism / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D051557:Hepatocyte Nuclear Factor 4 / Q000235:genetics; D006801:Humans; D006946:Hyperinsulinism / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D007003:Hypoglycemia / Q000150:complications / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics / Q000628:therapy*; D050417:Insulin-Secreting Cells / Q000378:metabolism; D050356:Lipid Metabolism / Q000235:genetics; D008954:Models, Biological; D009154:Mutation; D015221:Potassium Channels / Q000235:genetics / Q000378:metabolism / Q000502:physiology
chemical_list: C496592:HNF4A protein, human; D051557:Hepatocyte Nuclear Factor 4; D015221:Potassium Channels