All submissions of the EM system will be redirected to Online Manuscript Submission System. Authors are requested to submit articles directly to Online Manuscript Submission System of respective journal.

Abstract

Permanent Neonatal Diabetes Mellitus Due to an ABCC8 Mutation: A Case Report

Context Neonatal diabetes is a rare disorder with an incidence of about 1 in 100,000 live births. It is defined as diabetesdiagnosed in the first 6 months of life and it is vital to differentiate this entity from type 1 diabetes to enable accuratediagnosis, prognosis, genetic counseling and treatment. Case report We describe a case of permanent neonatal diabetesmellitus due to a novel mutation affecting the ABCC8 gene that encodes the SUR1 subunit of potassium ATP channel (KATP).Conclusion This genetic diagnosis has therapeutic implications as patients can switch from insulin therapy to sulphonylurea,as described in this case report.


Author(s):

Nithya Abraham, Anish Ahamed, Ambika Gopalakrishnan Unnikrishnan, Harish Kumar, Sian Ellard



Abstract | Full-Text | PDF

Share this  Facebook  Twitter  LinkedIn  Google+

Abstracted/Indexed in

  • Index Copernicus
  • Academic Journals Database
  • Genamics JournalSeek
  • Academic Keys
  • China National Knowledge Infrastructure (CNKI)
  • CiteFactor
  • Scimago
  • British Library
  • Electronic Journals Library
  • Directory of Research Journal Indexing (DRJI)
  • WorldCat
  • Emerging Sources Citation Index (ESCI)
  • EBSCO Host
  • MIAR
  • International Committee of Medical Journal Editors (ICMJE)
  • University of Zurich - UZH
  • University Grants Commission
  • SWB Online-Katalog
  • Scholarsteer
  • Geneva Foundation for Medical Education and Research
  • Secret Search Engine Labs
Flyer image