title: Permanent neonatal diabetes mellitus due to an ABCC8 mutation: a case report.
abstract: BACKGROUND
  Neonatal diabetes is a rare disorder with an incidence of about 1 in 100,000 live births. It is defined as diabetes diagnosed in the first 6 months of life and it is vital to differentiate this entity from type 1 diabetes to enable accurate diagnosis, prognosis, genetic counseling and treatment.
  
  
  METHODS
  We describe a case of permanent neonatal diabetes mellitus due to a novel mutation affecting the ABCC8 gene that encodes the SUR1 subunit of potassium ATP channel (KATP).
  
  
  CONCLUSIONS
  This genetic diagnosis has therapeutic implications as patients can switch from insulin therapy to sulphonylurea, as described in this case report.
authors.affiliation: Department of Endocrinology, Amrita Institute of Medical Sciences. Cochin, India. drnithya22@gmail.com.
authors.forename: Nithya
authors.initials: N
authors.lastname: Abraham
authors.forename: Anish
authors.initials: A
authors.lastname: Ahamed
authors.forename: Ambika Gopalakrishnan
authors.initials: AG
authors.lastname: Unnikrishnan
authors.forename: Harish
authors.initials: H
authors.lastname: Kumar
authors.forename: Sian
authors.initials: S
authors.lastname: Ellard
mesh_terms: D001786:Blood Glucose / Q000378:metabolism; D003920:Diabetes Mellitus / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics*; D005260:Female; D005905:Glyburide / Q000627:therapeutic use; D006801:Humans; D007004:Hypoglycemic Agents / Q000627:therapeutic use; D007223:Infant; D007328:Insulin / Q000627:therapeutic use; D009154:Mutation / Q000235:genetics*; D064233:Sulfonylurea Receptors / Q000235:genetics*; D016896:Treatment Outcome
chemical_list: C577507:ABCC8 protein, human; D001786:Blood Glucose; D007004:Hypoglycemic Agents; D007328:Insulin; D064233:Sulfonylurea Receptors; D005905:Glyburide