Genetics of congenital hyperinsulinemic hypoglycemia

Seminars in Pediatric Surgery

Volumn 20, Issue 1, 2011, Pages 13-17

  Flanagan, Sarah E ^a   Kapoor, Ritika R ^b   Hussain, Khalid ^b  

^a UNIVERSITY OF EXETER   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Diazoxide; Genetics; Hyperinsulinemic hypoglycemia; KATP channel; Mutations

Indexed keywords

3 HYDROXYACYL COENZYME A DEHYDROGENASE; GLUCOSE; GLUTAMATE DEHYDROGENASE; GLUTAMATE DEHYDROGENASE 1; HEPATOCYTE NUCLEAR FACTOR 4; INSULIN; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR6.2; SULFONYLUREA RECEPTOR 1; UNCLASSIFIED DRUG;

ARTICLE; ENZYME ACTIVITY; GENETIC SCREENING; GLUCOSE METABOLISM; HETEROZYGOSITY; HUMAN; INSULIN RELEASE; LOSS OF FUNCTION MUTATION; PANCREAS ISLET BETA CELL; PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY; PHENOTYPE; PRIORITY JOURNAL; TUMOR SUPPRESSOR GENE;

3-HYDROXYACYL COA DEHYDROGENASES; ATP-BINDING CASSETTE TRANSPORTERS; DIAZOXIDE; GLUTAMATE DEHYDROGENASE; HEPATOCYTE NUCLEAR FACTOR 4; HUMANS; KATP CHANNELS; MONOCARBOXYLIC ACID TRANSPORTERS; MUTATION; PERSISTENT HYPERINSULINEMIA HYPOGLYCEMIA OF INFANCY; PHENOTYPE; POTASSIUM CHANNELS, INWARDLY RECTIFYING; PROTEIN-SERINE-THREONINE KINASES; RECEPTORS, DRUG; SYMPORTERS; VASODILATOR AGENTS;

EID: 78650481146     PISSN: 10558586     EISSN: None     Source Type: Journal    
DOI: 10.1053/j.sempedsurg.2010.10.004     Document Type: Article

References (28)

1. Glaser B., Thornton P., Otonkoski T., et al. Genetics of neonatal hyperinsulinism. Arch Dis Child Fetal Neonat Ed 2000, 82:F79-F86.
2. Otonkoski T., Nanto-Salonen K., Seppanen M., et al. Noninvasive diagnosis of focal hyperinsulinism of infancy with [18F]-DOPA positron emission tomography. Diabetes 2006, 55:13-18.
3. Thomas P.M., Cote G.J., Wohllk N., et al. Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy. Science 1995, 268:426-429.
4. Thomas P., Ye Y., Lightner E. Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy. Hum Mol Genet 1996, 5:1809-1812.
5. Ashcroft F.M. ATP-sensitive potassium channelopathies: focus on insulin secretion. J Clin Invest 2005, 115:2047-2058.
6. de Lonlay P., Fournet J.C., Rahier J., et al. Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy. J Clin Invest 1997, 100:802-807.
7. Damaj L., le Lorch M., Verkarre V., et al. Chromosome 11p15 paternal isodisomy in focal forms of neonatal hyperinsulinism. J Clin Endocrinol Metab 2008, 93:4941-4947.
8. Huopio H., Reimann F., Ashfield R., et al. Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1. J Clin Invest 2000, 106:897-906.
9. Lin Y.W., MacMullen C., Ganguly A., et al. A novel KCNJ11 mutation associated with congenital hyperinsulinism reduces the intrinsic open probability of beta-cell ATP-sensitive potassium channels. J Biol Chem 2006, 281:3006-3012.
10. Huopio H., Otonkoski T., Vauhkonen I., et al. A new subtype of autosomal dominant diabetes attributable to a mutation in the gene for sulfonylurea receptor. 1. Lancet 2003, 361:301-307.
11. Pinney S.E., MacMullen C., Becker S., et al. Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations. J Clin Invest 2008, 118:2877-2886.
12. Stanley C.A., Lieu Y.K., Hsu B.Y., et al. Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene. N Engl J Med 1998, 338:1352-1357.
13. Raizen D.M., Brooks-Kayal A., Steinkrauss L., et al. Central nervous system hyperexcitability associated with glutamate dehydrogenase gain of function mutations. J Pediatr 2005, 146:388-394.
14. Kapoor R.R., Flanagan S.E., Fulton P., et al. Hyperinsulinism-hyperammonaemia syndrome: novel mutations in the GLUD1 gene and genotype-phenotype correlations. Eur J Endocrinol 2009, 161:731-735.
15. Pearson E.R., Boj S.F., Steele A.M., et al. Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene. PLoS Med 2007, 4:e118.
16. Flanagan S.E., Kapoor R.R., Mali G., et al. Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations. Eur J Endocrinol 2010, 162:987-992.
17. Kapoor R.R., Locke J., Colclough K., et al. Persistent hyperinsulinemic hypoglycemia and maturity-onset diabetes of the young due to heterozygous HNF4A mutations. Diabetes 2008, 57:1659-1663.
18. Glaser B., Kesavan P., Heyman M., et al. Familial hyperinsulinism caused by an activating glucokinase mutation. N Engl J Med 1998, 338:226-230.
19. Matschinsky F.M. Regulation of pancreatic beta-cell glucokinase: from basics to therapeutics. Diabetes 2002, 51(Suppl 3):S394-S404.
20. Wabitsch M., Lahr G., Van de Bunt M., et al. Heterogeneity in disease severity in a family with a novel G68V GCK activating mutation causing persistent hyperinsulinaemic hypoglycaemia of infancy. Diabet Med 2007, 24:1393-1399.
21. Cuesta-Munoz A.L., Huopio H., Otonkoski T., et al. Severe persistent hyperinsulinemic hypoglycemia due to a de novo glucokinase mutation. Diabetes 2004, 53:2164-2168.
22. Sayed S., Langdon D.R., Odili S., et al. Extremes of clinical and enzymatic phenotypes in children with hyperinsulinism due to glucokinase activating mutations. Diabetes 2009, 58:1419-1427.
23. Clayton P.T., Eaton S., Aynsley-Green A., et al. Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion. J Clin Invest 2001, 108:457-465.
24. Kapoor R.R., James C., Flanagan S.E., et al. 3-hydroxyacyl-coenzyme A dehydrogenase deficiency and hyperinsulinemic hypoglycemia: characterization of a novel mutation and severe dietary protein sensitivity. J Clin Endocrinol Metab 2009, 94:2221-2225.
25. Molven A., Matre G.E., Duran M., et al. Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation. Diabetes 2004, 53:221-227.
26. Di Candia S., Gessi A., Pepe G., et al. Identification of a diffuse form of hyperinsulinemic hypoglycemia by 18-fluoro-L-3,4 dihydroxyphenylalanine positron emission tomography/CT in a patient carrying a novel mutation of the HADH gene. Eur J Endocrinol 2009, 160:1019-1023.
27. Otonkoski T., Kaminen N., Ustinov J., et al. Physical exercise-induced hyperinsulinemic hypoglycemia is an autosomal-dominant trait characterized by abnormal pyruvate-induced insulin release. Diabetes 2003, 52:199-204.
28. Otonkoski T., Jiao H., Kaminen-Ahola N., et al. Physical exercise-induced hypoglycemia caused by failed silencing of monocarboxylate transporter 1 in pancreatic beta cells. Am J Hum Genet 2007, 81:467-474.