title: Neonatal diabetes mellitus due to L233F mutation in the KCNJ11 gene.
abstract: BACKGROUND
  Neonatal diabetes mellitus (NDM) due to KCNJ11 gene mutation presents with diabetes in the first 3 months of life and sometimes with neurological features like developmental delay, muscle weakness and epilepsy.
  
  
  METHODS
  A 5-week-old boy presented with diabetic ketoacidosis. Molecular genetic analysis of the patient revealed heterozygous missense mutation, L233F in the KCNJ11 gene, while his mother was mosaic for the same mutation.
  
  
  RESULTS
  The treatment strategy was changed from insulin injections to oral glibenclamide and with a better glycemic control.
  
  
  CONCLUSIONS
  The patient with NDM due to mutation L233F (not reported till date) in the KCNJ11 gene can be successfully treated with oral glibenclamide therapy.
authors.affiliation: Division of Pediatric Endocrinology, Department of Pediatrics, B. J. Wadia Hospital for Children Parel, Mumbai 400012, India. rrj23@rediffmail.com
authors.forename: Rajesh
authors.initials: R
authors.lastname: Joshi
authors.forename: Ankur
authors.initials: A
authors.lastname: Phatarpekar
mesh_terms: D004252:DNA Mutational Analysis; D016883:Diabetic Ketoacidosis / Q000188:drug therapy / Q000235:genetics*; D005905:Glyburide / Q000008:administration & dosage / Q000627:therapeutic use; D006801:Humans; D007004:Hypoglycemic Agents / Q000008:administration & dosage / Q000627:therapeutic use; D007223:Infant; D007336:Insulin, Isophane / Q000627:therapeutic use; D008297:Male; D020125:Mutation, Missense / Q000502:physiology; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics*; D000099161:Kcnj11 Channel
chemical_list: D005905:Glyburide; D007004:Hypoglycemic Agents; D007336:Insulin, Isophane; D024661:Potassium Channels, Inwardly Rectifying; D000099161:Kcnj11 Channel