K Hussain

Summary

Affiliation: University College London
Country: UK

Publications

  1. ncbi request reprint Hyperinsulinaemic hypoglycaemia in infancy and childhood--resolving the enigma
    K Hussain
    The London Centre for Paediatric Endocrinology and Metabolism, Great Ormond Street Hospital for Children, UK
    J Pediatr Endocrinol Metab 17:1375-84. 2004
  2. pmc Hyperinsulinism-hyperammonaemia syndrome: novel mutations in the GLUD1 gene and genotype-phenotype correlations
    Ritika R Kapoor
    Developmental Endocrinology Research Group, Molecular Genetics Unit, London Centre for Paediatric Endocrinology and Metabolism, Great Ormond Street Hospital for Children NHS Trust, and the Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK
    Eur J Endocrinol 161:731-5. 2009
  3. pmc Familial focal congenital hyperinsulinism
    Dunia Ismail
    Department of Endocrinology, Great Ormond Street Hospital for Children, National Health Service Trust, University College London, London, United Kingdom
    J Clin Endocrinol Metab 96:24-8. 2011
  4. doi request reprint The heterogeneity of focal forms of congenital hyperinsulinism
    Dunia Ismail
    Department of Endocrinology, Great Ormond Street, Hospital for Children National Health Service Trust, London, UK
    J Clin Endocrinol Metab 97:E94-9. 2012
  5. ncbi request reprint Diagnosis and management of hyperinsulinaemic hypoglycaemia of infancy
    Khalid Hussain
    London Centre for Paediatric Endocrinology and Metabolism, Great Ormond Street Hospital for Children NHS Trust, Institute of Child Health, University College London, London, UK
    Horm Res 69:2-13. 2008
  6. ncbi request reprint From congenital hyperinsulinism to diabetes mellitus: the role of pancreatic beta-cell KATP channels
    Khalid Hussain
    The London Centre for Paediatric Endocrinology and Metabolism, Great Ormond Street Hospital for Children NHS Trust, London, UK
    Pediatr Diabetes 6:103-13. 2005
  7. ncbi request reprint Congenital hyperinsulinism
    K Hussain
    The Institute of Child Health, Unit of Biochemistry, Endocrinology and Metabolism, University College London, 30 Guilford Street, London WC1N 1EH, UK
    Semin Fetal Neonatal Med 10:369-76. 2005
  8. ncbi request reprint Hyperinsulinemic hypoglycemia in Beckwith-Wiedemann syndrome due to defects in the function of pancreatic beta-cell adenosine triphosphate-sensitive potassium channels
    K Hussain
    London Centre for Paediatric Endocrinology and Metabolism, Great Ormond Street Hospital for Children NHS Trust, London, United Kingdom
    J Clin Endocrinol Metab 90:4376-82. 2005
  9. ncbi request reprint Ketotic hypoglycaemia in children with diazoxide responsive hyperinsulinism of infancy
    Khalid Hussain
    The Institute of Child Health, Unit of Biochemistry, Endocrinology and Metabolism, University College London, 30 Guilford Street, WC1N 1EH, London, UK
    Eur J Pediatr 164:387-90. 2005
  10. ncbi request reprint Infantile hyperinsulinism associated with enteropathy, deafness and renal tubulopathy: clinical manifestations of a syndrome caused by a contiguous gene deletion located on chromosome 11p
    Khalid Hussain
    London Centre for Paediatric Endocrinology and Metabolism, Great Ormond Street Hospital for Children NHS Trust and Institute of Child Health, London, UK
    J Pediatr Endocrinol Metab 17:1613-21. 2004

Detail Information

Publications68

  1. ncbi request reprint Hyperinsulinaemic hypoglycaemia in infancy and childhood--resolving the enigma
    K Hussain
    The London Centre for Paediatric Endocrinology and Metabolism, Great Ormond Street Hospital for Children, UK
    J Pediatr Endocrinol Metab 17:1375-84. 2004
    ..This review article is based on a plenary lecture delivered at the European Society for Paediatric Endocrinology meeting in Montreal on behalf of the European Network for Research into Hyperinsulinism of Infancy (ENRHI)...
  2. pmc Hyperinsulinism-hyperammonaemia syndrome: novel mutations in the GLUD1 gene and genotype-phenotype correlations
    Ritika R Kapoor
    Developmental Endocrinology Research Group, Molecular Genetics Unit, London Centre for Paediatric Endocrinology and Metabolism, Great Ormond Street Hospital for Children NHS Trust, and the Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK
    Eur J Endocrinol 161:731-5. 2009
    ..GDH is regulated by another intra-mitochondrial enzyme sirtuin 4 (SIRT4). Sirt4 knockout mice demonstrate activation of GDH with increased amino acid-stimulated insulin secretion...
  3. pmc Familial focal congenital hyperinsulinism
    Dunia Ismail
    Department of Endocrinology, Great Ormond Street Hospital for Children, National Health Service Trust, University College London, London, United Kingdom
    J Clin Endocrinol Metab 96:24-8. 2011
    ..The probability of both events occurring within siblings is rare...
  4. doi request reprint The heterogeneity of focal forms of congenital hyperinsulinism
    Dunia Ismail
    Department of Endocrinology, Great Ormond Street, Hospital for Children National Health Service Trust, London, UK
    J Clin Endocrinol Metab 97:E94-9. 2012
    ..Histologically, there are two major subgroups, focal and diffuse. Focal CHI is typically unresponsive to diazoxide and can be cured with surgical removal of the focal lesion...
  5. ncbi request reprint Diagnosis and management of hyperinsulinaemic hypoglycaemia of infancy
    Khalid Hussain
    London Centre for Paediatric Endocrinology and Metabolism, Great Ormond Street Hospital for Children NHS Trust, Institute of Child Health, University College London, London, UK
    Horm Res 69:2-13. 2008
    ..Despite recent advances, the genetic basis of congenital hyperinsulinism is still unknown in about 50% of the patients, and the management of medically unresponsive diffuse disease remains a real challenge...
  6. ncbi request reprint From congenital hyperinsulinism to diabetes mellitus: the role of pancreatic beta-cell KATP channels
    Khalid Hussain
    The London Centre for Paediatric Endocrinology and Metabolism, Great Ormond Street Hospital for Children NHS Trust, London, UK
    Pediatr Diabetes 6:103-13. 2005
    ..This article is a review focusing on how abnormalities in the pancreatic beta-cell K(ATP) channels can lead to severe hypoglycemia on the one hand and diabetes mellitus on the other...
  7. ncbi request reprint Congenital hyperinsulinism
    K Hussain
    The Institute of Child Health, Unit of Biochemistry, Endocrinology and Metabolism, University College London, 30 Guilford Street, London WC1N 1EH, UK
    Semin Fetal Neonatal Med 10:369-76. 2005
    ..The ability to distinguish diffuse from focal lesions has profound implications for therapeutic approaches, prognosis and genetic counselling...
  8. ncbi request reprint Hyperinsulinemic hypoglycemia in Beckwith-Wiedemann syndrome due to defects in the function of pancreatic beta-cell adenosine triphosphate-sensitive potassium channels
    K Hussain
    London Centre for Paediatric Endocrinology and Metabolism, Great Ormond Street Hospital for Children NHS Trust, London, United Kingdom
    J Clin Endocrinol Metab 90:4376-82. 2005
    ..However, in a small group of patients the hypoglycemia can be persistent and may require pancreatectomy. The mechanism of persistent hyperinsulinemic hypoglycemia in this group of patients is unclear...
  9. ncbi request reprint Ketotic hypoglycaemia in children with diazoxide responsive hyperinsulinism of infancy
    Khalid Hussain
    The Institute of Child Health, Unit of Biochemistry, Endocrinology and Metabolism, University College London, 30 Guilford Street, WC1N 1EH, London, UK
    Eur J Pediatr 164:387-90. 2005
    ..The precise mechanism of the hypoglycaemia is unclear...
  10. ncbi request reprint Infantile hyperinsulinism associated with enteropathy, deafness and renal tubulopathy: clinical manifestations of a syndrome caused by a contiguous gene deletion located on chromosome 11p
    Khalid Hussain
    London Centre for Paediatric Endocrinology and Metabolism, Great Ormond Street Hospital for Children NHS Trust and Institute of Child Health, London, UK
    J Pediatr Endocrinol Metab 17:1613-21. 2004
    ..This contiguous gene deletion provides important insights into the normal development of several body organ systems...
  11. ncbi request reprint Serum glucagon counterregulatory hormonal response to hypoglycemia is blunted in congenital hyperinsulinism
    Khalid Hussain
    The London Centre for Pediatric Endocrinology and Metabolism, Great Ormond Street Hospital for Children National Health Service Trust, University College London, UK
    Diabetes 54:2946-51. 2005
    ..Other possible mechanisms such as the suppressive effect of prolonged hyperinsulinemia on alpha-cell secretion should be considered...
  12. ncbi request reprint Medications used in the treatment of hypoglycemia due to congenital hyperinsulinism of infancy (HI)
    Khalid Hussain
    The London Centre for Paediatric Endocrinology and Metabolism, Great Ormond Street Hospital for Children NHS Trust WC1N 3JH and the Institute of Child Health, University College London, WC1N 1EH United Kingdom
    Pediatr Endocrinol Rev 2:163-7. 2004
    ..The drugs used in the medical therapy for congenital hyperinsulinism are diazoxide, octreotide, glucagon and nifedipine...
  13. ncbi request reprint The diagnosis of ectopic focal hyperinsulinism of infancy with [18F]-dopa positron emission tomography
    Khalid Hussain
    London Center for Pediatric Endocrinology and Metabolism, Hospital for Children National Health Service Trust, London WC1N 3JH, United Kingdom
    J Clin Endocrinol Metab 91:2839-42. 2006
    ..The focal form of the disease can be cured if the focal lesion can be localized accurately and completely resected with surgery...
  14. doi request reprint Mutations in pancreatic ß-cell Glucokinase as a cause of hyperinsulinaemic hypoglycaemia and neonatal diabetes mellitus
    Khalid Hussain
    Clinical and Molecular Genetics Unit, The Developmental Endocrinology Research Group, Institute of Child Health, Hospital for Children NHS Trust, University College London, Great Ormond Street, London, UK
    Rev Endocr Metab Disord 11:179-83. 2010
    ....
  15. pmc Hyperinsulinaemic hypoglycaemia: biochemical basis and the importance of maintaining normoglycaemia during management
    Khalid Hussain
    London Centre for Paediatric Endocrinology and Metabolism, Great Ormond Street Hospital for Children NHS Trust, London, UK
    Arch Dis Child 92:568-70. 2007
  16. ncbi request reprint Insights in congenital hyperinsulinism
    Khalid Hussain
    London Centre for Paediatric Endocrinology and Metabolism, Great Ormond Street Hospital for Children NHS Trust, London, UK
    Endocr Dev 11:106-21. 2007
    ..Despite huge advances in the last 10 years the mechanisms leading to hyperinsulinaemic hypoglycaemia are still unknown in >50% of patients...
  17. doi request reprint Diabetes mellitus, exocrine pancreatic deficiency, hypertrichosis, hyperpigmentation, and chronic inflammation: confirmation of a syndrome
    Khalid Hussain
    Department of Paediatric Endocrinology and Diabetes, Great Ormond Street Hospital for Children, London, UK
    Pediatr Diabetes 10:193-7. 2009
    ..The presence of consanguinity in the parents and similarity of clinical features in the siblings are suggestive of a novel autoimmune disorder, possibly secondary to autosomal recessive inheritance...
  18. doi request reprint Congenital hyperinsulinism and neonatal diabetes mellitus
    Khalid Hussain
    Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, Institute of Child Health, University College London, 30 Guilford Street, London, WC1N 1EH, UK
    Rev Endocr Metab Disord 11:155-6. 2010
    ..This knowledge has also had a significant impact on our clinical approach to patients with these two disorders and fundamentally changed patient management...
  19. ncbi request reprint Severe transient neonatal hyperinsulinism associated with hyperlactataemia in non-asphyxiated infants
    K Hussain
    The London Centre for Paediatric Endocrinology and Metabolism, Great Ormond Street Hospital for Children and the Institute of Child Health, University College London, UK
    J Pediatr Endocrinol Metab 17:203-9. 2004
    ..Infants presenting with HI should have a free flowing blood sample drawn for the measurement of plasma lactate levels...
  20. ncbi request reprint Hyperinsulinism in infancy: understanding the pathophysiology
    K Hussain
    The London Centre for Paediatric Endocrinology and Metabolism, Great Ormond Street Hospital for Children NHS Trust, London WC1N 3JH, UK
    Int J Biochem Cell Biol 35:1312-7. 2003
    ..So far mutations in five different genes have been described which lead to dysregulated insulin secretion from beta-cells. Despite these advances the genetic defect is still unknown in about 60% of cases...
  21. ncbi request reprint The inaccuracy of venous and capillary blood glucose measurement using reagent strips in the newborn period and the effect of haematocrit
    K Hussain
    Neonatal Intensive Care Unit, Basildon General Hospital, Essex, UK
    Early Hum Dev 57:111-21. 2000
    ..It suggests that venous RST may be more inaccurate in comparison to capillary and that high haematocrits have a greater effect on venous RST than capillary RST...
  22. ncbi request reprint Neonates with symptomatic hyperinsulinemic hypoglycemia generate inappropriately low serum cortisol counterregulatory hormonal responses
    K Hussain
    London Center for Pediatric Endocrinology and Metabolism, Great Ormond Street Hospital for Children, National Health Service Trust, and Institute for Child Health, University College, London, United Kingdom
    J Clin Endocrinol Metab 88:4342-7. 2003
    ..The normal serum cortisol response to an i.v. bolus injection of Synacthen suggests that this is a centrally mediated phenomenon and does not imply that these patients have adrenal insufficiency...
  23. pmc Hyperinsulinaemic hypoglycaemia in preterm neonates
    K Hussain
    London Centre for Paediatric Endocrinology and Metabolism, Great Ormond Street Hospital for Children NHS Trust, London WC1N 3JH, UK
    Arch Dis Child Fetal Neonatal Ed 89:F65-7. 2004
    ..HI should be considered in the differential diagnosis of severe hypoglycaemia in preterm infants...
  24. ncbi request reprint Hypoketotic hypofattyacidaemic hypoinsulinaemic hypoglycaemia in a child with hemihypertrophy? A new syndrome
    K Hussain
    London Centre for Paediatric Endocrinology and Metabolism, Great Ormond Street Hospital for Children NHS Trust London and the Institute of Child Health, University College London, London, UK
    Horm Res 61:222-7. 2004
    ..Hyperinsulinaemic hypoglycaemia is also seen in children with the Beckwith-Wiedemann syndrome, where it is usually transient...
  25. ncbi request reprint Uncontrolled insulin secretion from a childhood pancreatic beta-cell adenoma is not due to the functional loss of ATP-sensitive potassium channels
    K Hussain
    Department of Biochemistry, Endocrinology and Metabolism, Institute of Child Health, 30 Guilford Street, London, UK
    Endocr Relat Cancer 9:221-6. 2002
    ..This case illustrates that the excess insulin secretion from an infantile adenoma has an aetiology different from that observed in hyperinsulinism in infancy...
  26. ncbi request reprint Management of hyperinsulinism in infancy and childhood
    K Hussain
    London Centre for Paediatric Endocrinology and Metabolism, Great Ormond Street Hospital for Children NHS Trust, and the Institute of Child Health, University College London, UK
    Ann Med 32:544-51. 2000
    ..This review article updates the management of HI derived from a Consensus Workshop held by the European Network for Research into Hyperinsulinism (ENRHI) in 1999...
  27. pmc Hyperinsulinaemic hypoglycaemia and diabetes mellitus due to dominant ABCC8/KCNJ11 mutations
    R R Kapoor
    Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, Institute of Child Health, University College London, 30 Guilford Street, London, WC1N 1EH, UK
    Diabetologia 54:2575-83. 2011
    ....
  28. doi request reprint The genetic basis of congenital hyperinsulinism
    C James
    London Centre for Paediatric Endocrinology and Metabolism, Hospital for Children NHS Trust, and The nstitute of Child Health, University College London, London, UK
    J Med Genet 46:289-99. 2009
    ..Understanding the genetic basis of CHI has not only provided novel insights into beta-cell physiology but also aided in patient management and genetic counselling...
  29. ncbi request reprint Spontaneous hypoglycemia in childhood is accompanied by paradoxically low serum growth hormone and appropriate cortisol counterregulatory hormonal responses
    K Hussain
    London Center for Pediatric Endocrinology and Metabolism, Great Ormond Street Hospital for Children, National Health Service Trust, London WC1N 3JH, United Kingdom
    J Clin Endocrinol Metab 88:3715-23. 2003
    ..A low GH level detected at the time of spontaneous hypoglycemia does not necessarily imply GH deficiency or GH as a cause of the hypoglycemia...
  30. ncbi request reprint Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with hyperinsulinism: a novel glucose-fatty acid cycle?
    S Eaton
    Department of Paediatric Surgery, Institute of Child Health, 30 Guilford Street, London WC1N 1EH, U K
    Biochem Soc Trans 31:1137-9. 2003
    ..A novel link between fatty acid oxidation and insulin secretion may explain hyperinsulinism in these patients...
  31. doi request reprint Hyperinsulinaemic hypoglycaemia
    R R Kapoor
    Institute of Child Health, University College London, London, UK
    Arch Dis Child 94:450-7. 2009
    ..This review gives an outline of the clinical presentation, the diagnostic cascade, the underlying molecular mechanisms and the management of HH with a particular focus on congenital forms of hyperinsulinism...
  32. ncbi request reprint A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene
    M Bitner-Glindzicz
    Department of Clinical and Molecular Genetics, Institute of Child Health, and Great Ormond Street Hospital for Children NHS Trust, London, UK
    Nat Genet 26:56-60. 2000
    ..The pattern of expression of the USH1C protein is consistent with the clinical features exhibited by individuals with the contiguous gene deletion and with isolated Usher type 1C...
  33. pmc Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion
    P T Clayton
    London Centre for Paediatric Endocrinology and Metabolism, Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, University College London, United Kingdom
    J Clin Invest 108:457-65. 2001
    ..The patient's hyperinsulinism was easily controlled with diazoxide and chlorothiazide...
  34. pmc Transient hyperinsulinism associated with macrosomia, hypertrophic obstructive cardiomyopathy, hepatomegaly, and nephromegaly
    A Mehta
    Great Ormond Street Hospital and The Institute of Child Health, London, UK
    Arch Dis Child 88:822-4. 2003
  35. ncbi request reprint An ABCC8 gene mutation and mosaic uniparental isodisomy resulting in atypical diffuse congenital hyperinsulinism
    Khalid Hussain
    Department of Endocrinology, Great Ormond Street Hospital for Children NHS Trust and the Institute of Child Health, University College London, London, UK
    Diabetes 57:259-63. 2008
    ..We investigated an atypical case with normal morphology within the tail of the pancreas but occasional enlarged endocrine nuclei in parts of the body and head...
  36. ncbi request reprint From hyperinsulinaemic hypoglycaemia to ketotic hypoglycaemia: the range of glucose abnormalities in patients born with intrauterine growth retardation
    Inderpal Singh Kochar
    London Centre for Paediatric Endocrinology and Metabolism, Great Ormond Street Hospital for Children NHS Trust, London, WC1N 3JH, UK
    Eur J Pediatr 166:1003-7. 2007
    ..We report our observations of ketotic hypoglycaemia in six children who were born with IUGR and developed hyperinsulinaemic hypoglycaemia (HH) that required treatment with diazoxide and chlorothiazide...
  37. doi request reprint Congenital hyperinsulinism due to a compound heterozygous ABCC8 mutation with spontaneous resolution at eight weeks
    Anitha Kumaran
    London Centre for Paediatric Endocrinology and Metabolism, Great Ormond Street Hospital for Children NHS Trust, and Institute of Child Health, University College London, London, UK
    Horm Res Paediatr 73:287-92. 2010
    ....
  38. ncbi request reprint Complex ABCC8 DNA variations in congenital hyperinsulinism: lessons from functional studies
    Morris Muzyamba
    BHF Laboratories and Department of Medicine, University College London, London, UK
    Clin Endocrinol (Oxf) 67:115-24. 2007
    ..2, respectively, are the commonest cause of CHI. We investigated whether the possession of two DNA variants leading to coding changes in a single allele of ABCC8 can affect the potential mechanism of disease pathogenesis...
  39. pmc An activating mutation of AKT2 and human hypoglycemia
    K Hussain
    Clinical and Molecular Genetics Unit, Developmental Endocrinology Research Group, Institute of Child Health, University College London, London WC1N 1EH, UK
    Science 334:474. 2011
    ..Thus, systemic metabolic disease can result from constitutive, cell-autonomous activation of signaling pathways normally controlled by insulin...
  40. doi request reprint Advances in the diagnosis and management of hyperinsulinemic hypoglycemia
    Ritika R Kapoor
    Institute of Child Health, University College London and Great Ormond Street Hospital for Children National Health Services Trust, London, UK
    Nat Clin Pract Endocrinol Metab 5:101-12. 2009
    ....
  41. ncbi request reprint Severe hypoinsulinaemic hypoglycaemia in a premature infant associated with poor weight gain and reduced adipose tissue
    Raquel Coelho
    Department of Endocrinology, Great Ormond Street Hospital for Children NHS Trust and the Institute of Child Health, University College London, London, UK
    Horm Res 68:91-8. 2007
    ..Although preterm and IUGR infants have limited adipose tissue stores, the role of adipose tissue and the associated adipocytokines in glucose physiology is not known...
  42. ncbi request reprint Mosaic Turner syndrome and hyperinsulinaemic hypoglycaemia
    Haya Alkhayyat
    London Centre for Paediatric Endocrinology and Metabolism, Great Ormond Street Hospital for Children NHS Trust and the Institute of Child Health, London, UK
    J Pediatr Endocrinol Metab 19:1451-7. 2006
    ..METHODS/PATIENT: We report the first case of a child with a complex mosaic Turner genotype and hyperinsulinaemic hypoglycaemia responsive to diazoxide therapy...
  43. ncbi request reprint Costello syndrome and hyperinsulinemic hypoglycemia
    Saji Alexander
    London Centre for Pediatric Endocrinology and Metabolism, Great Ormond Street, Hospital for Children NHS Trust, London, United Kingdom
    Am J Med Genet A 139:227-30. 2005
    ..Both patients required diazoxide therapy to stop the unregulated insulin secretion and maintain normoglycemia. The mechanism of persistent hyperinsulinism in patients with Costello syndrome is unclear...
  44. doi request reprint Congenital hyperinsulinism: [18F]DOPA PET/CT scan of a focal lesion in the head of the pancreas
    R R Kapoor
    Developmental Endocrinology Research Group, Molecular Genetics Unit, Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK
    Arch Dis Child Fetal Neonatal Ed 93:F166. 2008
  45. pmc HNF4A mutation: switch from hyperinsulinaemic hypoglycaemia to maturity-onset diabetes of the young, and incretin response
    V B Arya
    Department of Paediatric Endocrinology, Great Ormond Street Hospital for Children NHS, Trust, London The Institute of Child Health, University College London, Exeter, UK
    Diabet Med 31:e11-5. 2014
    ..We also measured the incretin response to a mixed meal in our patient...
  46. doi request reprint Hyperinsulinaemic hypoglycaemia
    V B Arya
    London Centre for Paediatric Endocrinology and Metabolism, Great Ormond Street Hospital for Children NHS Trust and the Institute of Child Health, University College London, London, UK
    Horm Metab Res 46:157-70. 2014
    ..This review provides an overview on the molecular mechanisms leading to HH in children and adults, it describes the clinical presentation and diagnosis, and finally the treatment options for the different forms of HH are discussed. ..
  47. pmc Postprandial hyperinsulinaemic hypoglycaemia and type 1 diabetes mellitus
    Myra Poon
    London Centre for Paediatric Endocrinology and Metabolism, Great Ormond Street Hospital for Children NHS Trust, London, UK
    Arch Dis Child 92:714-5. 2007
    ..PPHH prior to the onset of type 1 diabetes mellitus has not been previously described and may be a prodrome of type 1 diabetes mellitus...
  48. ncbi request reprint Hyperinsulinism of infancy associated with a novel splice site mutation in the SCHAD gene
    Khalid Hussain
    London Centre for Paediatric Endocrinology and Metabolism, Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, University College and Great Ormond Street Hospital for Children NHS Trust, 30 Guilford Street, London WC1N 1EH, UK
    J Pediatr 146:706-8. 2005
    ..This mutation resulted in a nearly complete absence of immunoreactive protein and a decrease in fibroblast SCHAD activity...
  49. doi request reprint Elevated basal and post-feed glucagon-like peptide 1 (GLP-1) concentrations in the neonatal period
    Raja Padidela
    London Centre for Paediatric Endocrinology and Metabolism, Great Ormond Street, Hospital for Children NHS Trust, London, UK
    Eur J Endocrinol 160:53-8. 2009
    ..In adults, plasma concentrations of amidated GLP-1 are typically within the 5-10 pmol/l range in the fasting state and increases to approximately 50 pmol/l after ingestion of a mixed meal...
  50. ncbi request reprint A child presenting with disordered consciousness, hallucinations, screaming episodes and abdominal pain
    Khalid Hussain
    Department of Biochemistry, Endocrinology and Metabolism, Institute of Child Health, London, UK
    Eur J Pediatr 161:127-9. 2002
  51. ncbi request reprint Assessment of Nifedipine therapy in Hyperinsulinemic Hypoglycemia due to mutations in the ABCC8 gene
    M Guemes
    1 Genetics and Genomic Medicine Programme, Genetics and Epigenetics in Health and Disease Section, Institute of Child Health, University College London
    J Clin Endocrinol Metab . 2016
    ..Previous case reports have documented the effectiveness of L-type calcium channel blockers (such as Nifedipine and Verapamil) for treating different forms of hyperinsulinemic hypoglycemia (HH)...
  52. doi request reprint Hyperinsulinism in developmental syndromes
    Ritika R Kapoor
    London Centre for Paediatric Endocrinology and Metabolism, Great Ormond Street Hospital for Children, UK
    Endocr Dev 14:95-113. 2009
    ..In summary, hyperinsulinism may be associated with a large number of developmental syndromes however the underlying molecular mechanisms that cause hyperinsulinism in these syndromes are still unknown...
  53. doi request reprint The clinical problem of hyperinsulinemic hypoglycemia and resultant infantile spasms
    Anitha Kumaran
    Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, Institute of Child Health, University College London, 30 Guilford St, London WC1N 1EH, United Kingdom
    Pediatrics 126:e1231-6. 2010
    ..The latent period before the onset of the spasms can be variable; hence, long-term neurodevelopmental follow-up (until 1 year of age) is necessary...
  54. doi request reprint Persistent hyperinsulinemic hypoglycemia and maturity-onset diabetes of the young due to heterozygous HNF4A mutations
    Ritika R Kapoor
    London Centre for Paediatric Endocrinology and Metabolism, Great Ormond Street Hospital for Children NHS Trust, and the Institute of Child Health, University College London, London, UK
    Diabetes 57:1659-63. 2008
    ..Recently, heterozygous mutations in the HNF4A gene were reported to cause transient hyperinsulinemic hypoglycemia associated with macrosomia...
  55. ncbi request reprint Interactions of diazoxide with frusemide, spironolactone, and acetylsalicylic acid in a patient with hyperinsulinism of Infancy and Fallot tetralogy
    Saji Alexander
    Department of Biochemistry, Endocrinology and Metabolism, Institute of Child Health, University College London, 30 Guilford Street, WC1N 1EH London, UK
    Eur J Pediatr 162:806-7. 2003
  56. doi request reprint 3-Hydroxyacyl-coenzyme A dehydrogenase deficiency and hyperinsulinemic hypoglycemia: characterization of a novel mutation and severe dietary protein sensitivity
    Ritika R Kapoor
    London Centre for Paediatric Endocrinology and Metabolism, Hospital for Children National Health Service Trust, London WC1N 3JH, United Kingdom
    J Clin Endocrinol Metab 94:2221-5. 2009
    ..All previously reported patients with mutations in HADH gene and hyperinsulinemic hypoglycemia (HH) showed raised plasma hydroxybutyrylcarnitine and urinary 3-hydroxyglutarate...
  57. doi request reprint Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation
    Henrik B T Christesen
    HC Andersen Children s Hospital, Odense University Hospital, DK 5000 Odense C, Denmark
    Eur J Endocrinol 159:27-34. 2008
    ..Activating glucokinase (GCK) mutations are a rarely reported cause of congenital hyperinsulinism (CHI), but the prevalence of GCK mutations is not known...
  58. ncbi request reprint Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity
    Sharona Tornovsky
    Endocrinology and Metabolism Service, Hadassah Hebrew University Medical Center, Jerusalem 91120, Israel
    J Clin Endocrinol Metab 89:6224-34. 2004
    ..In four patients (27%), no mutations were identified. Thus, further genetic heterogeneity is suggested in this disorder. These patients represent a cohort that can be used for searching for mutations in other candidate genes...
  59. ncbi request reprint Severe hyperinsulinaemic hypoglycaemia in a baby born to a mother taking oral ritodrine therapy for preterm labour
    Selim Kurtoglu
    Medical Faculty, Erciyes University, Kayseri, Turkey
    Horm Res 64:61-3. 2005
    ..The hyperinsulinaemic hypoglycaemia was managed with oral nifedipine as diazoxide was contraindicated due to fluid overload. Possible mechanisms of ritodrine-induced hypoglycaemia and insulin secretion are discussed...
  60. ncbi request reprint BPDZ 154 activates adenosine 5'-triphosphate-sensitive potassium channels: in vitro studies using rodent insulin-secreting cells and islets isolated from patients with hyperinsulinism
    Karen E Cosgrove
    Department of Biomedical Science, Institute of Molecular Physiology, University of Sheffield, Western Bank, Sheffield S10 2TN, UK
    J Clin Endocrinol Metab 87:4860-8. 2002
    ..These data suggest that BPDZ 154 or BPDZ 154-like compounds may have therapeutic potential in the treatment of certain forms of hyperinsulinism...
  61. ncbi request reprint Regulation of glucagon secretion at low glucose concentrations: evidence for adenosine triphosphate-sensitive potassium channel involvement
    Alvaro Munoz
    Departments of Medicine, Baylor College of Medicine, Houston, Texas 77030, USA
    Endocrinology 146:5514-21. 2005
    ..The results indicate that loss of alpha-cell K(ATP) channels uncouples glucagon release from inhibition by beta-cells and reveals a role for K(ATP) channels in the regulation of glucagon release by low glucose...
  62. ncbi request reprint Noninvasive diagnosis of focal hyperinsulinism of infancy with [18F]-DOPA positron emission tomography
    Timo Otonkoski
    Hospital for Children and Adolescents, and Program of Developmental and Reproductive Biology, Biomedicum Helsinki, Room C503b, PO Box 63, FIN 00014 University of Helsinki, Helsinki, Finland
    Diabetes 55:13-8. 2006
    ..In conclusion, [(18)F]-DOPA PET is a promising noninvasive method for the identification and localization of the focal form of CHI...
  63. ncbi request reprint Rapid genetic analysis in congenital hyperinsulinism
    Henrik B T Christesen
    Department of Paediatrics, Odense University Hospital, Odense, Denmark
    Horm Res 67:184-8. 2007
    ..However, genotyping usually takes too long to be helpful in the absence of a founder mutation...
  64. pmc Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency
    Robert S Jackson
    Chemical Pathology Department, East Surrey Hospital, Surrey, United Kingdom
    J Clin Invest 112:1550-60. 2003
    ....
  65. ncbi request reprint Exogenous administered DL- sodium beta-hydroxybutyrate (beta-OHB) can cross the blood brain barrier
    Khalid Hussain
    Pediatr Res 53:865; author reply 865-6. 2003
  66. pmc Gene duplications resulting in over expression of glucokinase are not a common cause of hypoglycaemia of infancy in humans
    Martijn van de Bunt
    Mol Genet Metab 94:268-9. 2008
  67. doi request reprint Neonatal and late-onset diabetes mellitus caused by failure of pancreatic development: report of 4 more cases and a review of the literature
    Rongrong Chen
    King s College London, Hodgkin Building, Guy s Campus, London SE1 9UL, United Kingdom
    Pediatrics 121:e1541-7. 2008
    ..Thus far, only a few genetic causes have been reported. We now report the clinical and genetic aspects of 4 more cases of permanent neonatal diabetes mellitus caused by pancreatic agenesis or hypoplasia...
  68. ncbi request reprint Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood
    Emma L Edghill
    Institute of Biomedical and Clinical Science, Peninsula Medical School, Barrack Road, Exeter EX2 5DW, UK
    Diabetes 57:1034-42. 2008
    ..We aimed to determine the prevalence, genetics, and clinical phenotype of INS mutations in large cohorts of patients with neonatal diabetes and permanent diabetes diagnosed in infancy, childhood, or adulthood...