Permanent neonatal diabetes in an Asian infant.

Research output: Contribution to journalArticle


  • Nicholas Shaw
  • AT Hattersley
  • S Ellard
  • AL Gloyn

Colleges, School and Institutes


We describe a novel homozygous missense glucokinase mutation (R397L) resulting in insulin-treated neonatal diabetes in an infant from a consanguineous Asian family. Both parents were heterozygous for R397L and had mild hyperglycemia. Glucokinase mutations should be considered in infants of all ethnic groups with neonatal diabetes and consanguinity.


Original languageEnglish
Pages (from-to)131-3
Number of pages3
JournalThe Journal of pediatrics
Issue number1
Publication statusPublished - 1 Jan 2005