hrp0094p2-242 | Fetal, neonatal endocrinology and metabolism (to include hypoglycaemia) | ESPE2021

Long-term follow-up in a case with congenital hyperinsulinemic hypoglycemia with a novel p.Ser1389Pro mutation in ABCC8 gene

Karacan Kucukali Gulin , Karacan Kucukali Gulin , Savas Erdeve Senay , Ozalkak Servan , Bayramoglu Elvan , Keskin Meliksah , Aycan Zehra , Cetinkaya Semra ,

Introduction: Hyperinsulinemic hypoglycemia is one of the most common causes of severe and persistent hypoglycemia in neonates and children. Early diagnosis and appropriate treatment prevent brain damage due to recurrent hypoglycemia. Genetic examination often can guide the treatment. The most common affected genes are the ABCC8 and KCNJ11 genes, which encode the SUR1 and Kir6.2 KATP channels, respectively. Here, a neonate with a novel variant in AB...