Successful treatment of a newborn with congenital hyperinsulinism having a novel heterozygous mutation in the ABCC8 gene using subtotal pancreatectomy

De Leon, 2007, Mechanisms of disease: advances in diagnosis and treatment of hyperinsulinism in neonates, Nat Clin Pract Endocrinol Metab, 3, 57, 10.1038/ncpendmet0368 Lord, 2013, Monogenic hyperinsulinemic hypoglycemia: current insights into the pathogenesis and management, Int J Pediatr Endocrinol, 2013, 3, 10.1186/1687-9856-2013-3 Snider, 2013, Genotype and phenotype correlations in 417 children with congenital hyperinsulinism, J Clin Endocrinol Metab, 98, E355, 10.1210/jc.2012-2169 Mohamed, 2012, Hyperinsulinaemic hypoglycaemia: genetic mechanisms, diagnosis and management, J Clin Res Pediatr Endocrinol, 4, 169, 10.4274/Jcrpe.821 Su, 2014, Long-term follow-up and mutation analysis of 27 Chinese cases of congenital hyperinsulinism, Horm Res Paediatr, 81, 169, 10.1159/000356911 Yorifuji, 2011, Molecular and clinical analysis of Japanese patients with persistent congenital hyperinsulinism: predominance of paternally inherited monoallelic mutations in the KATP channel genes, J Clin Endocrinol Metab, 96, E141, 10.1210/jc.2010-1281 Clayton, 2001, Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion, J Clin Invest, 108, 457, 10.1172/JCI200111294 Flanagan, 2010, Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations, Eur J Endocrinol, 162, 987, 10.1530/EJE-09-0861 Gonzalez-Barroso, 2008, Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretion, PLoS One, 3, e3850, 10.1371/journal.pone.0003850 Otonkoski, 2007, Physical exercise-induced hypoglycemia caused by failed silencing of monocarboxylate transporter 1 in pancreatic beta cells, Am J Hum Genet, 81, 467, 10.1086/520960 Palladino, 2010, The hyperinsulinism/hyperammonemia syndrome, Rev Endocr Metab Disord, 11, 171, 10.1007/s11154-010-9146-0 Sayed, 2009, Extremes of clinical and enzymatic phenotypes in children with hyperinsulinism caused by glucokinase activating mutations, Diabetes, 58, 1419, 10.2337/db08-1792 Thomas, 1996, Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy, Hum Mol Genet, 5, 1809, 10.1093/hmg/5.11.1809 de Lonlay, 1997, Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy, J Clin Invest, 100, 802, 10.1172/JCI119594 Verkarre, 1998, Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia, J Clin Invest, 102, 1286, 10.1172/JCI4495 Yorifuji, 2014, Congenital hyperinsulinism: current status and future perspectives, Ann Pediatr Endocrinol Metab, 19, 57, 10.6065/apem.2014.19.2.57 Hardy, 2007, Accuracy of [18F]fluorodopa positron emission tomography for diagnosing and localizing focal congenital hyperinsulinism, J Clin Endocrinol Metab, 92, 4706, 10.1210/jc.2007-1637