ea0027p59 | (1) | BSPED2011
Senniappan Senthil
, Flanagan Sarah
, Hindmarsh Peter
, Ellard Sian
, Russell-Taylor Michelle
, Peters Catherine
Introduction: Neonatal diabetes mellitus is a rare condition with an estimated incidence of 1 in 400 000 live births in the UK population. Half of these cases will have permanent neonatal diabetes mellitus (PNDM). We report a homozygous missense mutation (R397L) in the glucokinase (GCK) gene which is associated with PNDM, in an infant from a consanguineous Asian family.Case report: The baby was born with a birth weight of 1.68 kg at 38 weeks gesta...