title: Chromosome 6q24 transient neonatal diabetes mellitus and protein sensitive hyperinsulinaemic hypoglycaemia.
abstract: OBJECTIVE
  We describe the novel clinical observation of protein induced hyperinsulinaemic hypoglycaemia following remission of transient neonatal diabetes mellitus (TNDM) in a patient with 6q24 methylation defect.
  
  
  METHODS
  A male infant of non-consanguineous Caucasian parents, born at 40 weeks of gestation with a birth weight of 3330 g (-0.55 standard deviation score) presented with hyperglycaemia in the first week of life and was diagnosed with 6q24 TNDM. At 22 months of age, he developed recurrent hypoglycaemic episodes. Controlled diagnostic fast, oral glucose tolerance test, protein loading test and mixed meal tolerance test were undertaken. Sequencing of ABCC8, KCNJ11, GLUD1 and HADH were performed.
  
  
  RESULTS
  Investigations suggested a diagnosis of protein sensitive hyperinsulinaemic hypoglycaemia with normal serum ammonia, acylcarnitine profile and urine organic acids. Sequencing of ABCC8, KCNJ11, GLUD1 and HADH did not identify a pathogenic mutation to explain his hyperinsulinaemic hypoglycaemia.
  
  
  CONCLUSIONS
  This clinical case demonstrates the novel observation of protein sensitive hyperinsulinaemic hypoglycaemia in a patient with 6q24 TNDM. Long-term follow-up of patients with chromosome 6q24 TNDM is warranted following remission.
authors.forename: Prabhakaran
authors.initials: P
authors.lastname: Kalaivanan
authors.forename: Ved Bhushan
authors.initials: VB
authors.lastname: Arya
authors.forename: Pratik
authors.initials: P
authors.lastname: Shah
authors.forename: Vipan
authors.initials: V
authors.lastname: Datta
authors.forename: Sarah E
authors.initials: SE
authors.lastname: Flanagan
authors.forename: Deborah J G
authors.initials: DJ
authors.lastname: Mackay
authors.forename: Sian
authors.initials: S
authors.lastname: Ellard
authors.forename: Senthil
authors.initials: S
authors.lastname: Senniappan
authors.forename: Khalid
authors.initials: K
authors.lastname: Hussain
mesh_terms: D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D019175:DNA Methylation; D003920:Diabetes Mellitus / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D005951:Glucose Tolerance Test; D006801:Humans; D006946:Hyperinsulinism / Q000150:complications / Q000235:genetics* / Q000378:metabolism; D007003:Hypoglycemia / Q000150:complications / Q000235:genetics* / Q000378:metabolism; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D008297:Male; D009154:Mutation / Q000235:genetics; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics; D011379:Prognosis; D011506:Proteins / Q000737:chemistry*; D064233:Sulfonylurea Receptors / Q000235:genetics; D000099161:Kcnj11 Channel
chemical_list: D024661:Potassium Channels, Inwardly Rectifying; D011506:Proteins; D064233:Sulfonylurea Receptors; D000099161:Kcnj11 Channel; C577507:ABCC8 protein, human