{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T13:54:44Z","timestamp":1780581284280,"version":"3.54.1"},"reference-count":108,"publisher":"MDPI AG","issue":"16","license":[{"start":{"date-parts":[[2023,8,11]],"date-time":"2023-08-11T00:00:00Z","timestamp":1691712000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nutrients"],"abstract":"<jats:p>Hypoglycemia is due to defects in the metabolic systems involved in the transition from the fed to the fasting state or in the hormone control of these systems. In children, hypoglycemia is considered a metabolic-endocrine emergency, because it may lead to brain injury, permanent neurological sequelae and, in rare cases, death. Symptoms are nonspecific, particularly in infants and young children. Diagnosis is based on laboratory investigations during a hypoglycemic event, but it may also require biochemical tests between episodes, dynamic endocrine tests and molecular genetics. This narrative review presents the age-related definitions of hypoglycemia, its pathophysiology and main causes, and discusses the current diagnostic and modern therapeutic approaches.<\/jats:p>","DOI":"10.3390\/nu15163544","type":"journal-article","created":{"date-parts":[[2023,8,11]],"date-time":"2023-08-11T10:33:23Z","timestamp":1691750003000},"page":"3544","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Hypoglycemia in Children: Major Endocrine-Metabolic Causes and Novel Therapeutic Perspectives"],"prefix":"10.3390","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4250-4867","authenticated-orcid":false,"given":"Alessia","family":"Quarta","sequence":"first","affiliation":[{"name":"Department of Pediatrics, University of Chieti\u2014Pescara, Gabriele D\u2019Annunzio, 66100 Chieti, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Iannucci","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Chieti\u2014Pescara, Gabriele D\u2019Annunzio, 66100 Chieti, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5761-6848","authenticated-orcid":false,"given":"Miriana","family":"Guarino","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Chieti\u2014Pescara, Gabriele D\u2019Annunzio, 66100 Chieti, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annalisa","family":"Blasetti","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Chieti\u2014Pescara, Gabriele D\u2019Annunzio, 66100 Chieti, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Chiarelli","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Chieti\u2014Pescara, Gabriele D\u2019Annunzio, 66100 Chieti, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,8,11]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"684011","DOI":"10.3389\/fendo.2021.684011","article-title":"An Overview of Hypoglycemia in Children Including a Comprehensive Practical Diagnostic Flowchart for Clinical Use","volume":"12","author":"Casertano","year":"2021","journal-title":"Front. Endocrinol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1016\/j.jpeds.2015.03.057","article-title":"Recommendations from the Pediatric Endocrine Society for Evaluation and Management of Persistent Hypoglycemia in Neonates, Infants, and Children","volume":"167","author":"Thornton","year":"2015","journal-title":"J. Pediatr."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1136\/archdischild-2015-308337","article-title":"Recognition, assessment and management of hypoglycaemia in childhood","volume":"101","author":"Ghosh","year":"2016","journal-title":"Arch. Dis. Child."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"335","DOI":"10.21037\/tp.2017.10.06","article-title":"Hypoglycemia in the preterm neonate: Etiopathogenesis, diagnosis, management and long-term outcomes","volume":"6","author":"Sharma","year":"2017","journal-title":"Transl. Pediatr."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1542\/pir.2016-0063","article-title":"Neonatal Hypoglycemia","volume":"38","author":"Havranek","year":"2017","journal-title":"Pediatr. Rev."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"868","DOI":"10.1172\/JCI31669","article-title":"Hypoglycemia, functional brain failure, and brain death","volume":"117","author":"Cryer","year":"2007","journal-title":"J. Clin. Investig."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1520","DOI":"10.1016\/j.jpeds.2015.02.045","article-title":"Re-Evaluating \u201cTransitional Neonatal Hypoglycemia\u201d: Mechanism and Implications for Management","volume":"166","author":"Stanley","year":"2015","journal-title":"J. Pediatr."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1016\/j.jpeds.2020.02.079","article-title":"Glucose Profiles in Healthy Term Infants in the First 5 Days: The Glucose in Well Babies (GLOW) Study","volume":"223","author":"Harris","year":"2020","journal-title":"J. Pediatr."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"1141","DOI":"10.1542\/peds.105.5.1141","article-title":"Controversies Regarding Definition of Neonatal Hypoglycemia: Suggested Operational Thresholds","volume":"105","author":"Cornblath","year":"2000","journal-title":"Pediatrics"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"651","DOI":"10.1016\/S0095-5108(02)00054-4","article-title":"Hypoglycemic injury to the immature brain","volume":"29","author":"Yager","year":"2002","journal-title":"Clin. Perinatol."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1023\/A:1005675827612","article-title":"Genetic hypoglycaemia in infancy and childhood: Pathophysiology and diagnosis","volume":"23","author":"Saudubray","year":"2000","journal-title":"J. Inherit Metab. Dis."},{"key":"ref_12","first-page":"463","article-title":"Glucose counterregulatory responses to hypoglycemia","volume":"9","author":"Sprague","year":"2011","journal-title":"Pediatr. Endocrinol. Rev."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1016\/j.clp.2022.02.003","article-title":"Neonatal Glucose Homeostasis","volume":"49","author":"Blanco","year":"2022","journal-title":"Clin. Perinatol."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"612","DOI":"10.1016\/j.jpeds.2009.06.044","article-title":"Knowledge Gaps and Research Needs for Understanding and Treating Neonatal Hypoglycemia: Workshop Report from Eunice Kennedy Shriver National Institute of Child Health and Human Development","volume":"155","author":"Hay","year":"2009","journal-title":"J. Pediatr."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1542\/peds.2010-3851","article-title":"Postnatal Glucose Homeostasis in Late-Preterm and Term Infants","volume":"127","author":"Adamkin","year":"2011","journal-title":"Pediatrics"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1159\/000487222","article-title":"Newborn Plasma Glucose Concentration Nadirs by Gestational-Age Group","volume":"113","author":"Kaiser","year":"2018","journal-title":"Neonatology"},{"key":"ref_17","first-page":"211","article-title":"Pediatric Hypoglycemia","volume":"63","author":"Lang","year":"2014","journal-title":"Pediatrics"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"111038","DOI":"10.1016\/j.mce.2020.111038","article-title":"Effect of growth hormone on insulin signaling","volume":"518","author":"Sharma","year":"2020","journal-title":"Mol. Cell Endocrinol."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1016\/j.siny.2016.08.007","article-title":"Neonatal hypoglycemia","volume":"22","author":"Adamkin","year":"2017","journal-title":"Semin. Fetal Neonatal Med."},{"key":"ref_20","first-page":"2","article-title":"Diagnosis and management of hyperinsulinaemic hypoglycaemia of infancy","volume":"69","author":"Hussain","year":"2008","journal-title":"Horm. Res."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"486","DOI":"10.1258\/acb.2008.008037","article-title":"Audit of acute hypoglycaemia in children: Re-audit of procedures for diagnosis","volume":"45","author":"Lang","year":"2008","journal-title":"Ann. Clin. Biochem. Int. J. Lab. Med."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"61","DOI":"10.14341\/probl12572","article-title":"Transient hyperinsulinism in neonates","volume":"66","author":"Bolmasova","year":"2020","journal-title":"Probl. Endocrinol."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1373\/clinchem.2007.098988","article-title":"Hyperinsulinism in Infancy and Childhood: When an Insulin Level Is Not Always Enough","volume":"54","author":"Palladino","year":"2008","journal-title":"Clin. Chem."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1016\/S0031-3955(05)70481-8","article-title":"Hyperinsulinism in Infants and Children","volume":"44","author":"Stanley","year":"1997","journal-title":"Pediatr. Clin. N. Am."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"3","DOI":"10.4093\/dmj.2021.0335","article-title":"Gestational Diabetes Mellitus: Diagnostic Approaches and Maternal-Offspring Complications","volume":"46","author":"Moon","year":"2022","journal-title":"Diabetes Metab. J."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1016\/j.clp.2017.10.007","article-title":"Hyperinsulinism in the Neonate","volume":"45","author":"Lord","year":"2018","journal-title":"Clin. Perinatol."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"R119","DOI":"10.1530\/JME-15-0016","article-title":"Molecular mechanisms of congenital hyperinsulinism","volume":"54","author":"Rahman","year":"2015","journal-title":"J. Mol. Endocrinol."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1152\/physrev.00022.2003","article-title":"Hyperinsulinism in infancy: From basic science to clinical disease","volume":"84","author":"Dunne","year":"2004","journal-title":"Physiol. Rev."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1186\/1750-1172-6-63","article-title":"Congenital hyperinsulinism: Current trends in diagnosis and therapy","volume":"6","author":"Arnoux","year":"2011","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"111","DOI":"10.3389\/fendo.2019.00111","article-title":"The Genetic and Molecular Mechanisms of Congenital Hyperinsulinism","volume":"10","author":"Galcheva","year":"2019","journal-title":"Front. Endocrinol."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1007\/s00431-007-0600-2","article-title":"What\u2019s new in metabolic and genetic hypoglycaemias: Diagnosis and management","volume":"167","author":"Valayannopoulos","year":"2008","journal-title":"Eur. J. Pediatr."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"863184","DOI":"10.3389\/fendo.2022.863184","article-title":"The Role of GLP-1 Signaling in Hypoglycemia due to Hyperinsulinism","volume":"13","author":"Danowitz","year":"2022","journal-title":"Front. Endocrinol."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1530\/EJE-12-0673","article-title":"Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism","volume":"168","author":"Kapoor","year":"2013","journal-title":"Eur. J. Endocrinol."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1515\/jpem-2019-0457","article-title":"Congenital hyperinsulinism due to compound heterozygous mutations in ABCC8 responsive to diazoxide therapy","volume":"33","author":"Houghton","year":"2020","journal-title":"J. Pediatr. Endocrinol. Metab."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"884","DOI":"10.1002\/humu.23995","article-title":"Update of variants identified in the pancreatic \u03b2-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes","volume":"41","author":"Brusgaard","year":"2020","journal-title":"Hum. Mutat."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"e230","DOI":"10.1542\/neo.22-4-e230","article-title":"Congenital Hyperinsulinism","volume":"22","author":"Sims","year":"2021","journal-title":"Neoreviews"},{"key":"ref_37","first-page":"69","article-title":"Congenital Hyperinsulinism: Diagnosis and Treatment Update","volume":"9","author":"Demirbilek","year":"2017","journal-title":"J. Clin. Res. Pediatr. Endocrinol."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1007\/s11154-010-9145-1","article-title":"Role of 18F-DOPA PET\/CT imaging in congenital hyperinsulinism","volume":"11","author":"Ismail","year":"2010","journal-title":"Rev. Endocr. Metab. Disord."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1111\/dme.13823","article-title":"Therapies and outcomes of congenital hyperinsulinism-induced hypoglycaemia","volume":"36","author":"Banerjee","year":"2019","journal-title":"Diabetes Med."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"544","DOI":"10.3109\/07853890008998834","article-title":"Management of hyperinsulinism in infancy and childhood","volume":"32","author":"Hussain","year":"2000","journal-title":"Ann. Med."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"3750","DOI":"10.1210\/clinem\/dgaa543","article-title":"Management and Appropriate Use of Diazoxide in Infants and Children with Hyperinsulinism","volume":"105","author":"Brar","year":"2020","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"70","DOI":"10.14341\/probl12654","article-title":"The use of long-acting somatostatin analogs in congenital hyperinsulinism","volume":"66","author":"Novokreshhennyx","year":"2020","journal-title":"Probl. Endokrinol."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1111\/bcp.13463","article-title":"Population pharmacokinetics of exendin-(9-39) and clinical dose selection in patients with congenital hyperinsulinism","volume":"84","author":"Ng","year":"2018","journal-title":"Br. J. Clin. Pharmacol."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"1381","DOI":"10.2337\/dc21-2009","article-title":"Exendin-(9-39) Effects on Glucose and Insulin in Children With Congenital Hyperinsulinism During Fasting and During a Meal and a Protein Challenge","volume":"45","author":"Stefanovski","year":"2022","journal-title":"Diabetes Care"},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"110667","DOI":"10.1016\/j.mce.2019.110667","article-title":"Pharmacological chaperones of ATP-sensitive potassium channels: Mechanistic insight from cryoEM structures","volume":"502","author":"Martin","year":"2020","journal-title":"Mol. Cell Endocrinol."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"20942","DOI":"10.1074\/jbc.M113.470948","article-title":"Carbamazepine as a Novel Small Molecule Corrector of Trafficking-impaired ATP-sensitive Potassium Channels Identified in Congenital Hyperinsulinism","volume":"288","author":"Chen","year":"2013","journal-title":"J. Biol. Chem."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"715","DOI":"10.1086\/383093","article-title":"Paradoxical NSD1 Mutations in Beckwith-Wiedemann Syndrome and 11p15 Anomalies in Sotos Syndrome","volume":"74","author":"Baujat","year":"2004","journal-title":"Am. J. Hum. Genet."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1136\/jmedgenet-2015-103394","article-title":"Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith-Wiedemann syndrome","volume":"53","author":"Kalish","year":"2016","journal-title":"J. Med. Genet."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"1013874","DOI":"10.3389\/fendo.2023.1013874","article-title":"Syndromic forms of congenital hyperinsulinism","volume":"14","author":"Zenker","year":"2023","journal-title":"Front. Endocrinol."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1159\/000323532","article-title":"Techniques in pediatric surgery: Congenital hyperinsulinism","volume":"75","author":"Barthlen","year":"2011","journal-title":"Horm. Res. Paediatr."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"705","DOI":"10.1016\/j.beem.2016.11.008","article-title":"Classical and non-classical causes of GH deficiency in the paediatric age","volume":"30","author":"Morana","year":"2016","journal-title":"Best. Pract. Res. Clin. Endocrinol. Metab."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1016\/j.ecl.2006.11.010","article-title":"Genetics of growth hormone deficiency","volume":"36","author":"Mullis","year":"2007","journal-title":"Endocrinol. Metab. Clin. N. Am."},{"key":"ref_53","first-page":"25","article-title":"Endocrinology Update: Hypopituitarism","volume":"451","author":"Heidelbaugh","year":"2016","journal-title":"FP Essent."},{"key":"ref_54","doi-asserted-by":"crossref","unstructured":"Donato, J., Wasinski, F., Furigo, I.C., Metzger, M., and Fraz\u00e3o, R. (2021). Central Regulation of Metabolism by Growth Hormone. Cells, 10.","DOI":"10.3390\/cells10010129"},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1159\/000080499","article-title":"Growth Hormone and Glucose Homeostasis","volume":"62","author":"Krag","year":"2004","journal-title":"Horm. Res. Paediatr."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"678778","DOI":"10.3389\/fendo.2021.678778","article-title":"Deficiency and Replacement Therapy in Hypopituitarism: Insight Into the Relationships With Other Hypothalamic-Pituitary Axes","volume":"12","author":"Profka","year":"2021","journal-title":"Front. Endocrinol."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"600962","DOI":"10.3389\/fped.2020.600962","article-title":"Congenital Hypopituitarism During the Neonatal Period: Epidemiology, Pathogenesis, Therapeutic Options, and Outcome","volume":"8","author":"Ara","year":"2021","journal-title":"Front. Pediatr."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"e484","DOI":"10.1542\/peds.2006-1612","article-title":"Adrenal Insufficiency: Still a Cause of Morbidity and Death in Childhood","volume":"119","author":"Shulman","year":"2007","journal-title":"Pediatrics"},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"3553","DOI":"10.1210\/jc.2007-0445","article-title":"Effects of Cortisol on Carbohydrate, Lipid, and Protein Metabolism: Studies of Acute Cortisol Withdrawal in Adrenocortical Failure","volume":"92","author":"Djurhuus","year":"2007","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1007\/s42000-019-00147-z","article-title":"Glucose metabolism disorders in patients with adrenal gland disorders: Pathophysiology and management","volume":"19","author":"Ioakim","year":"2020","journal-title":"Hormones"},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"E172","DOI":"10.1152\/ajpendo.00544.2001","article-title":"Effects of cortisol on lipolysis and regional interstitial glycerol levels in humans","volume":"283","author":"Djurhuus","year":"2002","journal-title":"Am. J. Physiol. Endocrinol. Metab."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"838","DOI":"10.1210\/js.2018-00386","article-title":"Primary Cortisol Deficiency and Growth Hormone Deficiency in a Neonate With Hypoglycemia: Coincidence or Consequence?","volume":"3","author":"Gujral","year":"2019","journal-title":"J. Endocr. Soc."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"E998","DOI":"10.1152\/ajpendo.00078.2018","article-title":"A novel measure of glucose homeostasis (or loss thereof) comprising the joint dynamics of glucose, insulin, glucagon, and cortisol","volume":"316","author":"Keenan","year":"2019","journal-title":"Am. J. Physiol.-Endocrinol. Metab."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"R1","DOI":"10.1530\/EJE-21-0794","article-title":"Clinical advances in the pharmacotherapy of congenital adrenal hyperplasia","volume":"186","author":"Prete","year":"2022","journal-title":"Eur. J. Endocrinol."},{"key":"ref_65","doi-asserted-by":"crossref","unstructured":"Blyth, A.J., Kirk, N.S., and Forbes, B.E. (2020). Understanding IGF-II Action through Insights into Receptor Binding and Activation. Cells, 9.","DOI":"10.3390\/cells9102276"},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"798","DOI":"10.1210\/er.2012-1033","article-title":"Tumors, IGF-2, and hypoglycemia: Insights from the clinic, the laboratory, and the historical archive","volume":"34","author":"Dynkevich","year":"2013","journal-title":"Endocr. Rev."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"767","DOI":"10.1016\/S1357-2725(98)00048-X","article-title":"Insulin-like growth factor II (IGF-II)","volume":"30","author":"Day","year":"1998","journal-title":"Int. J. Biochem. Cell Biol."},{"key":"ref_68","doi-asserted-by":"crossref","unstructured":"Alvino, C.L., Ong, S.C., McNeil, K.A., Delaine, C., Booker, G.W., Wallace, J.C., and Forbes, B.E. (2011). Understanding the mechanism of insulin and insulin-like growth factor (IGF) receptor activation by IGF-II. PLoS ONE, 6.","DOI":"10.1371\/journal.pone.0027488"},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1158\/1535-7163.MCT-05-0252","article-title":"Novel human monoclonal antibodies to insulin-like growth factor (IGF)-II that potently inhibit the IGF receptor type I signal transduction function","volume":"5","author":"Feng","year":"2006","journal-title":"Mol. Cancer Ther."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"496","DOI":"10.1097\/MOP.0000000000001158","article-title":"Update on glycogen storage disease: Primary hepatic involvement","volume":"34","author":"Wright","year":"2022","journal-title":"Curr. Opin. Pediatr."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"4381","DOI":"10.3390\/ijms22094381","article-title":"Biomarkers in Glycogen Storage Diseases: An Update","volume":"22","year":"2021","journal-title":"Int. J. Mol. Sci."},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"R31","DOI":"10.1093\/hmg\/ddz133","article-title":"Gene therapy for glycogen storage diseases","volume":"28","author":"Kishnani","year":"2019","journal-title":"Hum. Mol. Genet."},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"S20","DOI":"10.1007\/BF02679990","article-title":"Glycogen storage disease type I: Diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I)","volume":"161","author":"Rake","year":"2002","journal-title":"Eur. J. Pediatr."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"e1","DOI":"10.1038\/gim.2014.128","article-title":"Diagnosis and management of glycogen storage disease type I: A practice guideline of the American College of Medical Genetics and Genomics","volume":"16","author":"Kishnani","year":"2014","journal-title":"Genet. Med."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1002\/1873-3468.13666","article-title":"Glycogen storage disease type Ib: Role of glucose-6-phosphate transporter in cell metabolism and function","volume":"594","author":"Sim","year":"2020","journal-title":"FEBS Lett."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"697","DOI":"10.1007\/s10545-016-9932-2","article-title":"Glycogen storage disease type III: Diagnosis, genotype, management, clinical course and outcome","volume":"39","author":"Sentner","year":"2016","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1097\/GIM.0b013e3181e655b6","article-title":"Glycogen storage disease type III diagnosis and management guidelines","volume":"12","author":"Kishnani","year":"2010","journal-title":"Genet. Med."},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"772","DOI":"10.1038\/s41436-018-0364-2","article-title":"Diagnosis and management of glycogen storage diseases type VI and IX: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)","volume":"21","author":"Kishnani","year":"2019","journal-title":"Genet. Med."},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"3828","DOI":"10.3390\/nu13113828","article-title":"Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs","volume":"13","author":"Derks","year":"2021","journal-title":"Nutrients"},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"15","DOI":"10.3233\/JND-190426","article-title":"Advancements in AAV-mediated Gene Therapy for Pompe Disease","volume":"7","author":"Salabarria","year":"2020","journal-title":"J. Neuromuscul. Dis."},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1016\/j.bpg.2010.07.012","article-title":"Inborn errors of carbohydrate metabolism","volume":"24","author":"Mayatepek","year":"2010","journal-title":"Best Pract. Res. Clin. Gastroenterol."},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"321","DOI":"10.5409\/wjcp.v11.i4.321","article-title":"Hereditary fructose intolerance: A comprehensive review","volume":"11","author":"Singh","year":"2022","journal-title":"World J. Clin. Pediatr."},{"key":"ref_83","unstructured":"Hegde, V.S., and Sharman, T. (2022). Hereditary Fructose Intolerance, NIH."},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"2593","DOI":"10.1080\/21645515.2021.1891816","article-title":"Letter to the editor concerning the article \u2018Safety of vaccines administration in hereditary fructose intolerance\u2019","volume":"17","author":"Couce","year":"2021","journal-title":"Hum. Vaccin. Immunother."},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1016\/j.gene.2015.06.077","article-title":"The molecular basis of galactosemia\u2014Past, present and future","volume":"589","author":"Timson","year":"2016","journal-title":"Gene"},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1016\/j.metabol.2018.01.025","article-title":"Hereditary galactosemia","volume":"83","author":"Demirbas","year":"2018","journal-title":"Metabolism"},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1097\/NMC.0000000000000388","article-title":"GALT Deficiency Galactosemia","volume":"43","author":"Anderson","year":"2018","journal-title":"MCN Am. J. Matern. Child. Nurs."},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1007\/s10545-016-9990-5","article-title":"International clinical guideline for the management of classical galactosemia: Diagnosis, treatment, and follow-up","volume":"40","author":"Welling","year":"2017","journal-title":"J. Inherit Metab. Dis."},{"key":"ref_89","doi-asserted-by":"crossref","unstructured":"Cuthbert, C., Klapper, H., and Elsas, L. (2008). Diagnosis of Inherited Disorders of Galactose Metabolism. Curr. Protoc. Hum. Genet., 56.","DOI":"10.1002\/0471142905.hg1705s56"},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"968","DOI":"10.3390\/biom12070968","article-title":"Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and Treatment","volume":"12","author":"Succoio","year":"2022","journal-title":"Biomolecules"},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"101257","DOI":"10.1016\/j.molmet.2021.101257","article-title":"Phosphoenolpyruvate carboxykinase in cell metabolism: Roles and mechanisms beyond gluconeogenesis","volume":"53","author":"Yu","year":"2021","journal-title":"Mol. Metab."},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1016\/j.ymgme.2010.05.004","article-title":"Pyruvate carboxylase deficiency: Mechanisms, mimics and anaplerosis","volume":"101","author":"Roe","year":"2010","journal-title":"Mol. Genet. Metab."},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"881","DOI":"10.1007\/s10545-014-9804-6","article-title":"Fructose 1,6-bisphosphatase deficiency: Clinical, biochemical and genetic features in French patients","volume":"38","author":"Lebigot","year":"2015","journal-title":"J. Inherit Metab. Dis."},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1002\/jimd.12452","article-title":"Fructose-1,6-bisphosphatase deficiency causes fatty liver disease and requires long-term hepatic follow-up","volume":"45","author":"Gorce","year":"2022","journal-title":"J. Inherit Metab. Dis."},{"key":"ref_95","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1016\/j.ymgmr.2014.11.001","article-title":"Pyruvate carboxylase deficiency: An underestimated cause of lactic acidosis","volume":"2","author":"Habarou","year":"2015","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_96","unstructured":"Wang, D., and de Vivo, D. (1993). Pyruvate Carboxylase Deficiency, NIH."},{"key":"ref_97","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1097\/01.gim.0000204472.25153.8d","article-title":"The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: An update","volume":"8","author":"Grosse","year":"2006","journal-title":"Genet. Med."},{"key":"ref_98","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1002\/ajmg.c.30087","article-title":"Disorders of carnitine transport and the carnitine cycle","volume":"142C","author":"Longo","year":"2006","journal-title":"Am. J. Med. Genet. C Semin. Med. Genet."},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"117","DOI":"10.5507\/bp.2011.038","article-title":"Fatty acids as biocompounds: Their role in human metabolism, health and disease\u2014A review. part 1, classification, dietary sources and biological functions","volume":"155","author":"Tvrzicka","year":"2011","journal-title":"Biomed. Pap."},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1016\/j.pcl.2017.11.006","article-title":"Inborn Errors of Metabolism with Myopathy","volume":"65","author":"Vockley","year":"2018","journal-title":"Pediatr. Clin. N. Am."},{"key":"ref_101","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1007\/s11154-018-9448-1","article-title":"Disorders of mitochondrial long-chain fatty acid oxidation and the carnitine shuttle","volume":"19","author":"Knottnerus","year":"2018","journal-title":"Rev. Endocr. Metab. Disord."},{"key":"ref_102","first-page":"71","article-title":"Disorders of the carnitine cycle and detection by newborn screening","volume":"37","author":"Wilcken","year":"2008","journal-title":"Ann. Acad Med. Singap."},{"key":"ref_103","doi-asserted-by":"crossref","first-page":"78R","DOI":"10.1203\/01.PDR.0000159631.63843.3E","article-title":"Fetal Fatty Acid Oxidation Disorders, Their Effect on Maternal Health and Neonatal Outcome: Impact of Expanded Newborn Screening on Their Diagnosis and Management","volume":"57","author":"Shekhawat","year":"2005","journal-title":"Pediatr. Res."},{"key":"ref_104","doi-asserted-by":"crossref","unstructured":"(2020). Long-chain fatty acid oxidation disorders and current management strategies. Am. J. Manag. Care, 26, S147\u2013S154.","DOI":"10.37765\/ajmc.2020.88480"},{"key":"ref_105","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1097\/PEC.0000000000001634","article-title":"The Incidence and Etiology of Previously Undiagnosed Hypoglycemic Disorders in the Emergency Department","volume":"36","author":"White","year":"2020","journal-title":"Pediatr. Emerg. Care"},{"key":"ref_106","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1016\/S0736-4679(03)00100-8","article-title":"Presenting features of idiopathic ketotic hypoglycemia","volume":"25","author":"Daly","year":"2003","journal-title":"J. Emerg. Med."},{"key":"ref_107","first-page":"193","article-title":"Medical aspects of ketone body metabolism","volume":"18","author":"Mitchell","year":"1995","journal-title":"Clin. Investig. Med."},{"key":"ref_108","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1186\/s13023-021-01797-2","article-title":"Towards enhanced understanding of idiopathic ketotic hypoglycemia: A literature review and introduction of the patient organization, Ketotic Hypoglycemia International","volume":"16","author":"Drachmann","year":"2021","journal-title":"Orphanet J. 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