TY - JOUR T1 - Neonatal diabetes with a rare LRBA mutation JF - BMJ Case Reports JO - BMJ Case Reports DO - 10.1136/bcr-2022-250243 VL - 15 IS - 11 SP - e250243 AU - Arti Yadav AU - Rakesh Kumar AU - Amit Rawat AU - Radha Venkatesan Y1 - 2022/11/01 UR - http://casereports.bmj.com/content/15/11/e250243.abstract N2 - Neonatal diabetes mellitus (NDM) is characterised by onset of persistent hyperglycaemia within the first 6 months of life. NDM is frequently caused by a mutation in a single gene affecting pancreatic beta cell function. We report an infant, born to a non-consanguineous couple, who presented with osmotic symptoms and diabetic ketoacidosis. The genetic analysis showed a mutation in LRBA (lipopolysaccharide-responsive and beige-like anchor protein) gene. We highlight the importance of considering genetic analysis in every infant with NDM, to understand the nature of genetic mutation, associated comorbidities, response to glibenclamide and future prognosis. ER -