Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations

European Journal of Endocrinology

Volumn 162, Issue 5, 2010, Pages 987-992

  Flanagan, S E ^a   Kapoor, R R ^b,c   Mali, G ^a   Cody, D ^d   Murphy, N ^e   Schwahn, B ^f   Siahanidou, T ^g   Banerjee, I ^h   Akcay, T ⁱ   Rubio Cabezas, O ^a,j   Shield, J P H ^k   Hussain, K ^b,c   Ellard, S ^a  

^a UNIVERSITY OF EXETER   (United Kingdom)

^b GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^e CHILDREN S UNIVERSITY HOSPITAL   (Ireland)

^f ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^g UNIVERSITY OF ATHENS   (Greece)

^h ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

ⁱ Bakirkoy Maternity and Child Hospital ^*  (Turkey)

^j HOSPITAL INFANTIL UNIVERSITARIO NIÑO JESÚS   (Spain)

^k BRISTOL ROYAL HOSPITAL FOR CHILDREN   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ABCC8 PROTEIN; ADENOSINE TRIPHOSPHATE SENSITIVE POTASSIUM CHANNEL; DIAZOXIDE; GCK PROTEIN; GLUTAMATE DEHYDROGENASE; HEPATOCYTE NUCLEAR FACTOR 4ALPHA; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR6.2; PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; BIRTH WEIGHT; DIABETES MELLITUS; GENE MUTATION; GENE SEQUENCE; HETEROZYGOSITY; HUMAN; HYPERAMMONEMIA; HYPERINSOLINEMIC HYPOGLYCEMIA; HYPERINSULINEMIA; HYPOGLYCEMIA; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; TREATMENT DURATION;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DIAZOXIDE; FEMALE; HEPATOCYTE NUCLEAR FACTOR 4; HUMANS; HYPERINSULINISM; HYPOGLYCEMIA; INFANT; INFANT, NEWBORN; MALE; MUTATION; PEDIGREE; PERSISTENT HYPERINSULINEMIA HYPOGLYCEMIA OF INFANCY;

EID: 77951662347     PISSN: 08044643     EISSN: 1479683X     Source Type: Journal    
DOI: 10.1530/EJE-09-0861     Document Type: Article

References (19)

1. Kapoor RR, Flanagan SE, James C, Shield J, Ellard S & Hussain K. Hypoglycaemia hypoglycaemia. Archives of Disease in Childhood 2009 94 450-457.
2. Thomas PM, Cote GJ, Wohllk N, Haddad B, Mathew PM, Rabl W, Aguilar-Bryan L, Gagel RF & Bryan J. Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy. Science 1995 268 426-429.
3. Thomas P, Ye Y & Lightner E. Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy. Human Molecular Genetics 1996 5 1809-1812.
4. ATP channels. Journal of Biological Chemistry 2002 277 17139-17146.
5. Ashcroft FM. ATP-sensitive potassium channelopathies: focus on insulin secretion. Journal of Clinical Investigation 2005 115 2047-2058. (Pubitemid 41134141)
6. Henwood MJ, Kelly A, Macmullen C, Bhatia P, Ganguly A, Thornton PS & Stanley CA. Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate- sensitive potassium channel genes. Journal of Clinical Endocrinology and Metabolism 2005 90 789-794. (Pubitemid 40279197)
7. Stanley CA, Lieu YK, Hsu BY, Burlina AB, Greenberg CR, Hopwood NJ, Perlman K, Rich BH, Zammarchi E & Poncz M. Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene. New England Journal of Medicine 1998 338 1352-1357. (Pubitemid 28216664)
8. Kapoor RR, Flanagan SE, Fulton P, Chakrapani A, Chadefaux B, Ben-Omran T, Banerjee I, Shield J, Ellard S & Hussain K. Hyperinsulinism-hyperammonaemia (HI/HA) syndrome: novel mutations in the GLUD1 gene and genotype-phenotype correlations. European Journal of Endocrinology 2009 161 731-735.
9. Glaser B, Kesavan P, Heyman M, Davis E, Cuesta A, Buchs A, Stanley CA, Thornton PS, Permutt MA, Matschinsky FM & Herold KC. Familial hyperinsulinism caused by an activating glucokinase mutation. New England Journal of Medicine 1997 338 226-230. (Pubitemid 28047576)
10. Clayton PT, Eaton S, Aynsley-Green A, Edginton M, Hussain K, Krywawych S, Datta V, Malingre HE, Berger R & van den Berg IE. Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion. Journal of Clinical Investigation 2001 108 457-465. (Pubitemid 32730792)
11. Sayed S, Langdon DR, Odili S, Chen P, Buettger C, Schiffman AB, Suchi M, Taub R, Grimsby J, Matschinsky FM & Stanley CA. Extremes of clinical and enzymatic phenotypes in children with hyperinsulinism due to glucokinase activating mutations. Diabetes 2009 58 1419-1427.
12. Molven A, Matre GE, Duran M, Wanders RJ, Rishaug U, Njolstad PR, Jellum E & Sovik O. Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation. Diabetes 2004 53 221-227. (Pubitemid 38044719)
13. Kapoor RR, James C, Flanagan SE, Ellard S, Hussain K & Enton S. 3-Hydroxyacyl-coenzyme A dehydrogenase deficiency and hyperinsulinemic hypoglycemia: characterization of a novel mutation and severe dietary protein sensitivity. Journal of Clinical Endocrinology and Metabolism 2009 94 2221-2225.
14. Pearson ER, Boj SF, Steele AM, Barrett T, Stals K, Shield JP, Ellard S, Ferrer J & Hattersley AT. Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene. PLoS Medicine 2007 4 e118. (Pubitemid 46658777)
15. Fajans SS & Bell GI. Macrosomia and neonatal hypoglycaemia in RW pedigree subjects with a mutation (Q268X) in the gene encoding hepatocyte nuclear factor 4alpha (HNF4A). Diabetologia 2007 50 2600-2601.
16. Kapoor RR, Locke J, Colclough K, Wales J, Conn JJ, Hattersley AT, Ellard S & Hussain K. Persistent hyperinsulinemic hypoglycemia and maturity-onset diabetes of the young due to heterozygous HNF4A mutations. Diabetes 2008 57 1659-1663.
17. Ellard S & Colclough K. Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young. Human Mutation 2006 27 854-869. (Pubitemid 44336935)
18. Pearson ER, Pruhova S, Tack CJ, Johansen A, Castleden HA, Lumb PJ, Wierzbicki AS, Clark PM, Lebl J, Pedersen O, Ellard S, Hansen T & Hattersley AT. Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4alpha mutations in a large European collection. Diabetologia 2005 48 878-885. (Pubitemid 40767980)
19. Freeman JV, Cole TJ, Chinn S, Jones PR, White EM & Preece MA. Cross sectional stature and weight reference curves for the UK, 1990. Archives of Disease in Childhood 1995 73 17-24.