PT  - JOURNAL ARTICLE
AU  - Yadav, Arti
AU  - Kumar, Rakesh
AU  - Rawat, Amit
AU  - Venkatesan, Radha
TI  - Neonatal diabetes with a rare LRBA mutation
AID  - 10.1136/bcr-2022-250243
DP  - 2022 Nov 01
TA  - BMJ Case Reports
PG  - e250243
VI  - 15
IP  - 11
4099  - http://casereports.bmj.com/content/15/11/e250243.short
4100  - http://casereports.bmj.com/content/15/11/e250243.full
SO  - BMJ Case Reports2022 Nov 01; 15
AB  - 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.