Çocuklarda Hipoglisemiye Yaklaşım

Frayn, K. N. Metabolicregulation: A humanperspective (3. bs.). John Wi- leyveSons. 2013.

Xie, C., Lin, Y., Qi, C., Wang, W., Yuan, Y., Song, D., Wang, Z., Liu, H., Feng, X., veGao, H. Neuro-endocrine-immuneregulation of metabolichomeos- tasis. CytokineveGrowthFactorReviews, 85, 165-178. 2025. doi:10.1016/j. cytogfr.2025.08.001

Pearson, M. J., Unger, R. H., ve Holland, W. L. Clinicaltrials, triumphs, an- dtribulations of glucagonreceptorantagonists. DiabetesCare, 39(7), 1075- 1077. 2016. doi:10.2337/dci15-0033

Riachi, R., Khalife, E., Kędzia, A., veNiechciał, E. Understanding insulin actionsbeyondglycemiccontrol: A narrativereview. Journal of ClinicalMe- dicine, 14(14), 5039. 2025. doi:10.3390/jcm14145039

Gallardo, N., Artigas-Jerónimo, S., Mazuecos, L., veAndrés, A. Neuroen- docrinecontrol of glucosehomeostasis: Integrativemechanismsfromthehy- pothalamustothebrainstem. Frontiers in Endocrinology, 16, 1731725. 2025. doi:10.3389/fendo.2025.1731725

Stark, R., Ashley, S. E., ve Andrews, Z. B. AMPK andtheneuroendocrinere- gulation of appetiteandenergyexpenditure. Molecularand Cellular Endoc- rinology, 366(2), 215-223. 2013. doi:10.1016/j.mce.2012.06.012

Hu, W., Zhu, H., veGong, F. Leptinandleptinresistance in obesity: Cur- rentevidence, mechanismsandfuturedirections. EndocrineConnections, 14(9), e250521. 2025. doi:10.1530/EC-25-0521

Tan, H., Yue, T., Chen, Z., Wu, W., Xu, S., veWeng, J.. Targeting FGF21 in cardiovascularandmetabolicdiseases: Frommechanismtomedicine. In- ternational Journal of BiologicalSciences, 19(1), 66-88. 2023. doi:10.7150/ ijbs.73936

Cui, X., Sun, Q., ve Wang, H. Targeting fibroblast growthfactor (FGF)-21: A promisingstrategyformetabolicdysfunction-associatedsteatoticliverdise- asetreatment. Frontiers in Pharmacology, 16, 1510322. 2025. doi:10.3389/fphar.2025.1510322

Scheen, A. J. Dual GIP/GLP-1 receptoragonists: New advancesfortrea- ting type-2 diabetes. Annalesd’Endocrinologie, 84(2), 316-321. 2023. do- i:10.1016/j.ando.2022.12.423

Ayesh, H., Beran, A., Suhail, S., Ayesh, S., veNiswender, K.. Comparative- analysis of Resmetirom vs. FGF21 analogs vs. GLP-1 agonists in MASLD and MASH: Network meta-analysis of clinicaltrials. Biomedicines, 12(10), 2328. 2024. doi:10.3390/biomedicines12102328

Stachteas, P., Nasoufidou, A., Karakasis, P., Koiliari, M., Karagiannidis, E., Koufakis, T., et al. Efficacy of dualglucagonandglucagon-like peptide-1 re- ceptoragonistsacrossthecardiometaboliccontinuum: A review of currentc- linicalevidence. Reviews in CardiovascularMedicine, 26(7), 39691. 2025. doi:10.31083/RCM39691

AmericanDiabetesAssociation Professional Practice Committee.. Sum- mary of revisions: Standards of care in diabetes—2026. DiabetesCare, 49(Supplement_1), S6-S12. 2026. doi:10.2337/dc26-SREV

Heller, D. (2026, 25 Ocak). Standard of care: Whodefines it, how, andwhy it matters. Substack. 2026.

Jaramillo, L. (2026, 6 Ocak). The 2026 ADA Standards of Care in diabete- sembracetechnologytosupportholisticcare. MedCentral. 2026.

Roden, M., veShulman, G. I. Theintegrativebiology of type 2 diabetes. Na- ture, 576(7785), 51-60. 2019. doi:10.1038/s41586-019-1797-8

Morton, G. J., Meek, T. H., ve Schwartz, M. W. Neurobiology of foodintake in healthanddisease. Nature ReviewsNeuroscience, 15(6), 367-378. 2014. doi:10.1038/nrn3745

Apovian, C. M., Aronne, L. J., Bessesen, D. H., McDonnell, M. E., Murad,

M. H., Pagotto, U., Ryan, D. H., Still, C. D. Pharmacologicalmanagement of obesity: An EndocrineSocietyclinicalpracticeguideline. TheJournal of ClinicalEndocrinologyveMetabolism, 100(2), 342-362. 2015. doi:10.1210/ jc.2014-3415

Son, J. W., veLim, S.. Glucagon-like peptide-1 basedtherapies: A new ho- rizon in obesitymanagement. EndocrinologyandMetabolism, 39, 206-221. 2024. doi:10.3803/EnM.2024.1940

Trefts, E. F., ve Shaw, R. J. AMPK: Restoringmetabolichomeostasisovers- paceand time. Molecular Cell, 81(18), 3677-3690. 2021. doi:10.1016/j.mol- cel.2021.08.015

AmericanDiabetesAssociation Professional PracticeCommittee.. Standar- ds of care in diabetes—2025. DiabetesCare, 48(Supplement_1), S1-S352. 2025. doi:10.2337/dc25-SINT

Kirichenko, T. V., Markina, Y. V., Bogatyreva, A. I., Tolstik, T. V., Varaeva, Y. R., veStarodubova, A. V. The role of adipokines in inflammatorymechanis- ms of obesity. International Journal of MolecularSciences, 23(23), 14982. 2022. doi:10.3390/ijms232314982

Hippensteele, A. (2025, 23 Mart). APhA 2025: GLP-1 receptoragonistsvs SGLT2 inhibitorsshowvariedbenefitforcardiovascularoutcomes in patient- swithdiabetes. Pharmacy Times. 2025.

Patel, S., veNiazi, S. K. Emergingfrontiers in GLP-1 therapeutics: A comprehensiveevidencebase (2025). Pharmaceutics, 17(8), 1036. 2025. doi:10.3390/pharmaceutics17081036

Sidrak, W. R., Kalra, S., veKalhan, A. Approvedandemerginghormone-ba- sed anti-obesitymedications: A reviewarticle. IndianJournal of Endocrino- logyandMetabolism, 28, 445-460. 2024. doi:10.4103/ijem.ijem_442_23

Dutta, P., Kumar, Y., Babu, A. T., GiriRavindran, S., Salam, A., Rai, B., et al. Tirzepatide: A promisingdrugfortype 2 diabetesandbeyond. Cureus, 15, e38379. 2023. doi:10.7759/cureus.38379

Jastreboff, A. M., Kaplan, L. M., Frías, J. P., Wu, Q., Du, Y., Gurbuz, S., et al. Triple–hormone-receptor agonist retatrutideforobesity—A phase 2 tri- al. The New EnglandJournal of Medicine, 389, 514-526. 2023. doi:10.1056/ NEJMoa2301972

Packer, M., Zile, M. R., Kramer, C. M., Baum, S. J., Litwin, S. E., Menon, V., et al. Tirzepatideforheartfailurewithpreservedejectionfractionandobesity. The New EnglandJournal of Medicine, 392, 427-437. 2025. doi:10.1056/ NEJMoa2410027

Loomba, R., Sanyal, A. J., Kowdley, K. V., Bhatt, D. L., Alkhouri, N., Frias, J. P., et al. Randomized, controlledtrial of the FGF21 analoguepegozafer- min in NASH. The New EnglandJournal of Medicine, 389, 998-1008. 2023. doi:10.1056/NEJMoa2304286

EndocrinologyIndia. (2025, Aralık). 2026 ADA Standards of Care: Sum- mary of Changes [Video]. YouTube. 2025.

Cornblath M, Reisner SH. Blood glucose in the neonate and its clinical significance. N Engl J Med 1965; 273: 378–81

Behrman RE, Kliegman R, Jenson HB. Nelson Textbook of Pediatrics, 16th edn. Philadelphia, PA: WB Saunders, 2000: 533–4.

Nicholl R. What is the normal range of blood glucose concentrations in healthy term newborns? Arch Dis Child 2003; 88: 238–9.

Bougneres PF, Lemmel C, Ferre P, Bier DM. Ketone body transport in the human neonate and infant. J Clin Invest 1986; 77: 42–8.

Koivisto M, Blanco-Sequeiros M, Krause U. Neonatal symptomatic and as- ymptomatic hypoglycemia: A follow-up study of 151 children. Dev Med Child Neurol 1972; 14: 603–14.

Brand PL, Molenaar NL, Kaaijk C, Wierenga WS. Neurodevelopmental outcome of hypoglycaemia in healthy, large for gestational age, term new- borns. Arch Dis Child 2005; 90: 78–81.

McKinlay CJ, Alsweiler JM, Ansell JM. CHYLD Study Group. Neonatal gl- ycemia and neurodevelopmental outcomes at 2 years. N Engl J Med 2015; 373: 1507–18.

Kerstjens JM, Bocca-Tjeertes IF, de Winter AF, Reijneveld SA, Bos AF. Ne- onatal morbidities and developmental delay in moderately preterm-born children. Pediatrics 2012; 130: 265–72.

Thornton PS, Stanley CA, De Leon DD. Pediatric Endocrine Society. Re- commendations from the Pediatric Endocrine Society for evaluation and management of persistent hypoglycemia in neonates, infants, and children. J Pediatr. 2015; 167: 238–45.

Marcus C. How to measure and interpret glucose in neonates. Acta Paedi- atr 2001; 90: 963–4.

Kuwa K, Nakayama T, Hoshino T, Tominaga M. Relationships of glucose concentrations in capillary whole blood, venous whole blood and venous plasma. Clin Chim Acta 2001; 307: 187–92.

Beardsall K, Vanhaesebrouck S, Ogilvy-Stuart AL. Validation of the conti- nuous glucose monitoring sensor in preterm infants. Arch Dis Child Fetal Neonatal Ed 2013; 98: 136–40.

McKinlay CJD, Chase JG, Dickson J, Harris DL, Alsweiler JM, Harding JE. Continuous glucose monitoring in neonates: A review. Matern Health Ne- onatol Perinatol 2017; 3: 18.

Kalhan S, Parimi P. Gluconeogenesis in the fetus and neonate. Semin Peri- natol 2000; 24: 94–106.

Kramer MS, Platt RW, Wen SW. Fetal/Infant Health Study Group of the Canadian Perinatal Surveillance System. A new and improved populati- on-based Canadian reference for birth weight for gestational age. Pediatrics 2001; 108: 35.

De Rooy L, Hawdon J. Nutritional factors that affect the postnatal metabolic adaptation of full-term small- and large-for-gestational-age infants. Pediatrics 2002; 109: 42.

Bateman BT, Patorno E, Desai RJ. Late pregnancy s blocker exposure and risks of neonatal hypoglycemia and bradycardia. Pediatrics 2016; 138: E20160731.

Cornblath M, Ichord R. Hypoglycemia in the neonate. Semin Perinatol 2000; 24: 136–49

Burton BK. Inborn errors of metabolism in infancy: A guide to diagnosis. Pediatrics 1998; 102: E69.

Beard AG, Panos TC, Marasigan BV, Eminians J, Kennedy HF, Lamb J. Perinatal stress and the premature neonate. II. Effect of fluid and calorie deprivation on blood glucose. J Pediatr 1966; 68: 329–43.

Hawdon JM, Ward Platt MP, Aynsley-Green A. Patterns of metabolic adap- tation for preterm and term infants in the first neonatal week. Arch Dis Child 1992; 67: 357–65.

Holtrop PC. The frequency of hypoglycemia in full-term large and small for gestational age newborns. Am J Perinatol 1993; 10: 150–4.

Holtrop PC. The frequency of hypoglycemia in full-term large and small for gestational age newborns. Am J Perinatol 1993; 10: 150–4.

Duvanel CB, Fawer CL, Cotting J, Hohlfeld P, Matthieu JM. Long-term ef- fects of neonatal hypoglycemia on brain growth and psychomotor deve- lopment in small-forgestational- age preterm infants. J Pediatr 1999; 134: 492–8.

Stenninger E, Flink R, Eriksson B, Sahlen C. Long-term neurological dy- sfunction and neonatal hypoglycaemia after diabetic pregnancy. Arch Dis Child Fetal Neonatal Ed 1998; 79: F174–9.

Williams AF. Hypoglycaemia of the newborn: A review. Bull World Health Organ 1997; 75: 261–90.

Cornblath M, Hawdon JM, Williams AF. Controversies regarding definiti- on of neonatal hypoglycemia: Suggested operational thresholds. Pediatrics 2000; 105: 1141–5.

McKinlay CJD, Alsweiler JM, Anstice NS. Children with Hypoglycemia and their Later Development (CHYLD) Study Team. Association of ne- onatal glycemia with neurodevelopmental outcomes at 4.5 years. JAMA Pediatr 2017; 171: 972–83.

Stanley CA, Baker L. The causes of neonatal hypoglycemia. N Engl J Med 1999; 340: 1200–1.

Steinkrauss L, Lipman TH, Hendell CD, Gerdes M, Thornton PS, Stanley CA. Effects of hypoglycemia on developmental outcome in children with congenital hyperinsulinism. J Pediatr Nurs 2005; 20: 109–18.

Bonnefont JP, Specola NB, Vassault A. The fasting test in paediatrics: App- lication to the diagnosis of pathological hypo and hyperketotic states. Eur J Pediatr. 1990; 150: 80–5.

Ekhlaspour L, Mondesir D, Lautsch N. Comparative accuracy of 17 po- int-ofcare glucose meters. J Diabetes Sci Technol 2017; 11: 558–66.

Mehta A. Prevention and management of neonatal hyopoglycaemia. Arch Dis Child Fetal Neonatal Ed 1994; 70: 54–9.

Cornblath M. Neonatal hypoglycemia. In: Donn SM, Fisher CW, eds. Risk Management Techniques in Perinatal and Neonatal Practice. Armonk, NY: Futura Publishing Co., 1996: 437–48.

Marchini G, Persson B, Berggren V, Hagenas L. Hunger behaviour contri- butes to early nutritional homeostasis. Acta Paediatr 1998; 87: 671–5.

McInerney CM, Gupta A. Delaying the first bath decreases the incidence of neonatal hypoglycemia. J Obstet Gynecol Neonatal Nurs 2015; 44: 73–4.

Singhal PK, Singh M, Paul VK. Prevention of hypoglycemia: A controlled evaluation of sugar fortified milk feeding in small-for-gestational age in- fants. Indian Pediatr 1992; 29: 1365–9.

Kalhan SC, Savin SM, Adam PA. Measurement of glucose turnover in the human newborn with glucose-1-13C. J Clin Endocrinol Metab 1976; 43: 704–7.

Lilien LD, Pildes RS, Srinivasan G, Voora S, Yeh TF. Treatment of neonatal hypoglycemia with minibolus and intravenous glucose infusion. J Pediatr 1980; 97: 295–8.

Wu PY, Modanlou H, Karelitz M. Effect of glucagon on blood glucose ho- meostasis in infants of diabetic mothers. Acta Paediatr Scand 1975; 64: 441–5.

Vanhatalo T, Tammela O. Glucose infusions into peripheral veins in the management of neonatal hypoglycemia—20% instead of 15%? Acta Paedi- atr 2010; 99: 350–3.

Weston PJ, Harris DL, Battin M, Brown J, Hegarty JE, Harding JE. Oral dextrose gel for the treatment of hypoglycaemia in newborn infants. Coch- rane Database Syst Rev 2016; CD011027.

Harris DL, Weston PJ, Signal M, Chase JG, Harding JE. Dextrose gel for neonatal hypoglycaemia (the Sugar Babies Study): A randomised, doub- le-blind, placebocontrolled trial. Lancet 2013; 382: 2077–83.

Arcangeli T, Thilaganathan B, Hooper R, Khan KS, Bhide A. Neurodeve- lopmental delay in small babies at term: A systematic review. Ultrasound Obstet Gynecol 2012; 40: 267–75.

Aynsley-Green A, et al. Practical management of hyperinsulinism in in- fancy. Arch Dis Child Fetal Neonatal Ed. 2000;82:F98–F107. doi: 10.1136/ fn.82.2.F98.

Hussain K, et al. Hyperinsulinism in infancy: understanding the pathophy- siology. Int J Biochem Cell Biol. 2003;35:1312–1317. doi: 10.1016/S1357- 2725(03)00103-1.

Ajala ON, et al. Glucokinase mutation-a rare cause of recurrent hypoglyce- mia in adults: a case report and literature review. J Community Hosp Intern Med Perspect. 2016;6:32983. doi: 10.3402/jchimp.v6.32983.

Gutgold A, et al. Diagnosis of ABCC8 congenital hyperinsulinism of in- fancy in a 20-year-old man evaluated for factitious hypoglycemia. J Clin Endocrinol Metab. 2017;102:345–349. doi: 10.1210/jc.2016-3254.

Arya VB, et al. Clinical and molecular characterisation of hyperinsuli- naemic hypoglycaemia in infants born small-for-gestational age. Arch Dis Child Fetal Neonatal Ed. 2013;98:F356–F358. doi: 10.1136/archdisc- hild-2012-302880.

Kapoor RR, et al. Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism. Eur J Endocrinol. 2013;168:557–564. doi: 10.1530/EJE-12-0673.

Pierro A, et al. Surgical management of congenital hyperinsulinism of infancy. Semin Pediatr Surg. 2011;20:50–53. doi: 10.1053/j.semped- surg.2010.10.009.

Kapoor RR, et al. Hyperinsulinaemic hypoglycaemia. Arch Dis Child. 2009;94:450–457. doi: 10.1136/adc.2008.148171.

Hussain K, et al. Management of hyperinsulinism in infancy and childho- od. Ann Med. 2000;32:544–551. doi: 10.3109/07853890008998834.

James C, et al. The genetic basis of congenital hyperinsulinism. J Med Ge- net. 2009;46:289–299. doi: 10.1136/jmg.2008.064337.

Meintjes M, et al. 18F-DOPA PET and enhanced CT imaging for con- genital hyperinsulinism: initial UK experience from a technologist’s perspective. Nucl Med Commun. 2013;34:601–608. doi: 10.1097/MNM. 0b013e32836069d0.

Ismail D, et al. Role of 18F-DOPA PET/CT imaging in congenital hype- rinsulinism. Rev Endocr Metab Disord. 2010;11:165–169. doi: 10.1007/ s11154-010-9145-1.

Kapoor RR, et al. Congenital hyperinsulinism due to mutations in HNF4A and HADH. Rev Endocr Metab Disord. 2010;11:185–191. doi: 10.1007/ s11154-010-9148-y.

Flanagan SE, et al. Genetics of congenital hyperinsulinemic hypoglycemia. Semin Pediatr Surg. 2011;20:13–17. doi: 10.1053/j.sempedsurg.2010.10.004.

Ackermann AM, et al. Hypoglycemia due to lower threshold of glucose-sti- mulated insulin secretion in phosphoglucomutase 1 deficiency. Platform presentation at: Annual Meeting of the Pediatric Academic Societies; 2015 Apr 25–28; San Diego, CA.

Cabezas OR, et al. Polycystic kidney disease with hyperinsulinemic hypog- lycemia caused by a promoter mutation in phosphomannomutase 2. J Am Soc Nephrol. 2017;28:2529–2539. doi: 10.1681/ASN.2016121312.

Pinney SE, et al. Dominant form of congenital hyperinsulinism maps to HK1 region on 10q. Horm Res Paediatr. 2013;80:18–27. doi: 10.1159/000351943.

Tegtmeyer LC, et al. Multiple phenotypes in phosphoglucomutase 1 defi- ciency. N Engl J Med. 2014;370:533–542. doi: 10.1056/NEJMoa1206605.

Giri D, et al. Novel FOXA2 mutation causes hyperinsulinism, hypopituita- rism with craniofacial and endoderm-derived organ abnormalities. Hum Mol Genet. 2017;26:4315–4326. doi: 10.1093/hmg/ddx318.

Flanagan SE, et al. A CACNA1D mutation in a patient with persistent hy- perinsulinaemic hypoglycaemia, heart defects, and severe hypotonia. Pedi- atr Diabetes. 2017;18:320–323. doi: 10.1111/pedi.12512.

Malaisse WJ, et al. Insulin release: the fuel hypothesis. Metabolism. 1979;28:373–386. doi: 10.1016/0026-0495(79)90111-2.

Dunne MJ, et al. Hyperinsulinism in infancy: from basic science to clinical disease. Physiol Rev. 2004;84:239–275. doi: 10.1152/physrev.00022.2003.

Johnson JH, et al. The high Km glucose transporter of islets of Langerhans is functionally similar to the low affinity transporter of liver and has an identical primary sequence. J Biol Chem. 1990;265:6548–6551.

Gould GW, et al. Expression of human glucose transporters in Xenopus oo- cytes: kinetic characterization and substrate specificities of the erythrocyte, liver, and brain isoforms. Biochemistry. 1991;30:5139–5145. doi: 10.1021/ bi00235a004.

Matschinsky FM. Banting Lecture 1995. A lesson in metabolic regu- lation inspired by the glucokinase glucose sensor paradigm. Diabetes. 1996;45:223–241. doi: 10.2337/diab.45.2.223.

Cryer PE. Glucose counterregulation: prevention and correction of hypog- lycemia in humans. Am J Physiol. 1993;264:E149–155. doi: 10.1152/ajpen- do.1993.264.2.E149.

Cryer PE, et al. Evaluation and management of adult hypoglycemic disor- ders: an Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab. 2009;94:709–728. doi: 10.1210/jc.2008-1410.

Ferrara CT, et al. Novel hypoglycemia phenotype in congenital hyperinsu- linism due to dominant mutations of uncoupling protein 2. J Clin Endocri- nol Metab. 2017;102:942–949. doi: 10.1210/jc.2016-3164.

Ferrara C, et al. Biomarkers of insulin for the diagnosis of hyperinsulinemic hypoglycemia in infants and children. J Pediatr. 2016;168:212–219. doi: 10.1016/j.jpeds.2015.09.045.

Brady C, et al. A novel case of compound heterozygous congenital hyperin- sulinism without high insulin levels. Int J Pediatr Endocrinol. 2015;2015:16. doi: 10.1186/s13633-015-0012-4.

Palladino AA, et al. Hyperinsulinism in infancy and childhood: when an insulin level is not always enough. Clin Chem. 2008;54:256–263. doi: 10.1373/clinchem.2007.098988.

Senniappan S, et al. Hyperinsulinaemic hypoglycaemia: genetic mechanis- ms, diagnosis and management. J Inherit Metab Dis. 2012;35:589–601. doi: 10.1007/s10545-011-9441-2.

Shah P, et al. Hyperinsulinaemic hypoglycaemia in children and adults. Lancet Diabetes Endocrinol. 2017;5:729–742. doi: 10.1016/S2213- 8587(16)30323-0.

Stanley CA, et al. Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene. N Engl J Med. 1998;338:1352–1357. doi: 10.1056/NEJM199805073381904.

Clayton PT, et al. Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in in- sulin secretion. J Clin Invest. 2001;108:457–465. doi: 10.1172/JCI11294.

Hsu BY, et al. Protein-sensitive and fasting hypoglycemia in children with the hyperinsulinism/hyperammonemia syndrome. J Pediatr. 2001;138:383– 389. doi: 10.1067/mpd.2001.111818.

Meissner T, et al. Exercise induced hypoglycaemic hyperinsulinism. Arch Dis Child. 2001;84:254–257. doi: 10.1136/adc.84.3.254.

Otonkoski T, et al. Physical exercise-induced hyperinsulinemic hypogly- cemia is an autosomal-dominant trait characterized by abnormal pyruva- te-induced insulin release. Diabetes. 2003;52:199–204. doi: 10.2337/diabe- tes.52.1.199.

Finegold DN, et al. Glycemic response to glucagon during fasting hypogl- ycemia: an aid in the diagnosis of hyperinsulinism. J Pediatr. 1980;96:257– 259. doi: 10.1016/S0022-3476(80)80817-1.

Levitt Katz LE, et al. Insulin-like growth factor binding protein-1 levels in the diagnosis of hypoglycemia caused by hyperinsulinism. J Pediatr. 1997;131:193–199. doi: 10.1016/S0022-3476(97)70153-7.

Fafoula O, et al. Prolonged hyperinsulinaemic hypoglycaemia in newborns with intrauterine growth retardation. Arch Dis Child Fetal Neonatal Ed. 2006;91:F467. doi: 10.1136/adc.2006.095919.

Yap F, et al. Severe transient hyperinsulinaemic hypoglycaemia: two neona- tes without predisposing factors and a review of the literature. Eur J Pediatr. 2004;163:38–41. doi: 10.1007/s00431-003-1328-2.

Gribble FM, et al. Sulphonylurea action revisited: the post-cloning era. Di- abetologia. 2003;46:875–891. doi: 10.1007/s00125-003-1143-3.

Ashcroft FM, et al. New windows on the mechanism of action of K(ATP) channel openers. Trends Pharmacol Sci. 2000;21:439–445. doi: 10.1016/ S0165-6147(00)01563-7.

Rajan AS, et al. Sulfonylurea receptors and ATP-sensitive K+ channels in clonal pancreatic alpha cells. Evidence for two high affinity sulfonylurea receptors. J Biol Chem. 1993;268:15221–15228.

Shimono D, et al. ATP enhances exocytosis of insulin secretory granules in pancreatic islets under Ca2+-depleted condition. Diabetes Res Clin Pract. 2005;69:216–223. doi: 10.1016/j.diabres.2005.01.010.

Karaca M, et al. From pancreatic islets to central nervous system, the im- portance of glutamate dehydrogenase for the control of energy homeosta- sis. Neurochem Int. 2011;59:510–517. doi: 10.1016/j.neuint.2011.03.024.

Maechler P. Glutamate pathways of the beta-cell and the control of insulin secretion. Diabetes Res Clin Pract. 2017;131:149–153. doi: 10.1016/j.diab- res.2017.07.009.

Thomas PM, et al. Mutations in the sulfonylurea receptor gene in fa- milial persistent hyperinsulinemic hypoglycemia of infancy. Science. 1995;26:426–429. doi: 10.1126/science.7716548.

Thomas P, et al. Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy. Hum Mol Genet. 1996;5:1809–1812. doi: 10.1093/hmg/5.11.1809.

Lord K, et al. Clinical presentation and management of children with dif- fuse and focal hyperinsulinism: a review of 223 cases. J Clin Endocrinol Metab. 2013;98:E1786–E1789. doi: 10.1210/jc.2013-2094.

Snider KE, et al. Genotype and phenotype correlations in 417 children with congenital hyperinsulinism. J Clin Endocrinol Metab. 2013;98:E355–E363. doi: 10.1210/jc.2012-2169.

Pinney SE, et al. Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mu- tations. J Clin Invest. 2008;118:2877–2886. doi: 10.1172/JCI35414.

Arya VB, et al. Clinical and histological heterogeneity of congenital hy- perinsulinism due to paternally inherited heterozygous ABCC8/KCNJ11 mutations. Eur J Endocrinol. 2014;171:685–695. doi: 10.1530/EJE-14-0353.

Rozenkova K, et al. Could a combination of heterozygous ABCC8 and KCNJ11 mutations cause congenital hyperinsulinism? J Pediatr Endocrinol Metab. 2017;30:1311–1315. doi: 10.1515/jpem-2017-0163.

Kelly A, et al. Acute insulin responses to leucine in children with the hy- perinsulinism/hyperammonemia syndrome. J Clin Endocrinol Metab. 2001;86:3724–3728. doi: 10.1210/jcem.86.8.7755.

Li C, et al. Regulation of leucine-stimulated insulin secretion and glutami- ne metabolism in isolated rat islets. J Biol Chem. 2003;278:2853–2858. doi: 10.1074/jbc.M210577200.

Kibbey RG, et al. Mitochondrial GTP insensitivity contributes to hypoglycemia in hyperinsulinemia hyperammonemia by inhibiting glucagon rele- ase. Diabetes. 2014;63:4218–4229. doi: 10.2337/db14-0783.

Stanley CA, et al. Molecular basis and characterization of the hyperinsuli- nism/hyperammonemia syndrome: predominance of mutations in exons 11 and 12 of the glutamate dehydrogenase gene. Diabetes. 2000;49:667– 673. doi: 10.2337/diabetes.49.4.667.

Weinzimer SA, et al. Congenital hyperinsulinism and hyperammonemia sy- ndrome. J Pediatr. 1997;130:661–664. doi: 10.1016/S0022-3476(97)70256- 7.

Meissner T, et al. Urinary alpha-ketoglutarate is elevated in patients with hyperinsulinism-hyperammonemia syndrome. Clin Chim Acta. 2004;341:23–26. doi: 10.1016/j.cccn.2003.10.023.

Agren A, et al. Hydroxyacyl CoA dehydrogenase, an enzyme important in fat metabolism in different cell types in the islets of Langerhans. Diabete Metab. 1977;3:169–172.

Li C, et al. Mechanism of hyperinsulinism in short-chain 3-hydrox- yacyl-CoA dehydrogenase deficiency involves activation of glutamate dehydrogenase. J Biol Chem. 2010;285:31806–31818. doi: 10.1074/jbc. M110.123638.

Heslegrave AJ, et al. Leucine-sensitive hyperinsulinaemic hypoglycaemia in patients with loss of function mutations in 3-Hydroxyacyl-CoA Dehyd- rogenase. Orphanet J Rare Dis. 2012;7:25. doi: 10.1186/1750-1172-7-25.

Molven A, et al. Familial hyperinsulinemic hypoglycemia caused by a defe- ct in the SCHAD enzyme of mitochondrial fatty acid oxidation. Diabetes. 2004;53:221–227. doi: 10.2337/diabetes.53.1.221.

Heslegrave AJ, et al. Novel insights into fatty acid oxidation, amino acid metabolism, and insulin secretion from studying patients with loss of fun- ction mutations in 3-hydroxyacyl-CoA dehydrogenase. J Clin Endocrinol Metab. 2013;98:496–501. doi: 10.1210/jc.2012-3134.

Babiker O, et al. Protein-induced hyperinsulinaemic hypoglycaemia due to a homozygous HADH mutation in three siblings of a Saudi family. J Pediatr Endocrinol Metab. 2015;28:1073–1077. doi: 10.1515/jpem-2015-0033.

Flanagan SE, et al. Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemi- c-hypoglycemia in consanguineous families. J Clin Endocrinol Metab. 2011;96:E498–E502. doi: 10.1210/jc.2010-1906.

Iynedjian PB, et al. Differential expression and regulation of the gluco- kinase gene in liver and islets of Langerhans. Proc Natl Acad Sci USA. 1989;86:7838–7842. doi: 10.1073/pnas.86.20.7838.

Matschinsky FM. Regulation of pancreatic beta-cell glucokinase: from ba- sics to therapeutics. Diabetes. 2002;51(Suppl 3):S394–S404. doi: 10.2337/ diabetes.51.2007.s394.

Kukuvitis A, et al. An autosomal dominant form of familial hyperinsulinemic hypoglycemia not linked to the sulfonylurea receptor locus. J Clin Endocrinol Metab. 1997;82:1192–1194. doi: 10.1210/jcem.82.4.3904.

Martínez R, et al. Heterogeneity in the phenotype of hyperinsulinism ca- used by activating glucokinase mutations: a novel mutation and its fun- ctional characterization. Clin Endocrinol (Oxf). 2017;86:778–783. doi: 10.1111/cen.13318.

Barbetti F, et al. Opposite clinical phenotypes of glucokinase disease: desc- ription of a novel activating mutation and contiguous inactivating muta- tions in human glucokinase (GCK) gene. Mol Endocrinol. 2009;23:1983– 1989. doi: 10.1210/me.2009-0094.

Morishita K, et al. Asymptomatic congenital hyperinsulinism due to a glu- cokinase activating mutation treated as adrenal insufficiency for twelve ye- ars. Case Rep Endocrinol. 2017;2017:4709262. doi: 10.1155/2017/4709262.

Cuesta-Muñoz AL, et al. Severe persistent hyperinsulinemic hypoglycemia due to a de novo glucokinase mutation. Diabetes. 2004;53:2164–2168. doi: 10.2337/diabetes.53.8.2164.

Pullen TJ, et al. Overexpression of monocarboxylate transporter-1 (SL- C16A1) in mouse pancreatic β-cells leads to relative hyperinsulinism du- ring exercise. Diabetes. 2012;61:1719–1725. doi: 10.2337/db11-1531.

Miura A, et al. Hepatocyte nuclear factor-4alpha is essential for gluco- se-stimulated insulin secretion by pancreatic beta-cells. J Biol Chem. 2006;281:5246–5257. doi: 10.1074/jbc.M507496200.

Taraviras S, et al. Characterization of the mouse HNF-4 gene and its exp- ression during mouse embryogenesis. Mech Dev. 1994;48:67–79. doi: 10.1016/0925-4773(94)90017-5.

Pearson ER, et al. Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene. PLoS Med. 2007;4:e118. doi: 10.1371/journal.pmed.0040118.

Yamagata K, et al. Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1). Nature. 1996;384:458– 460. doi: 10.1038/384458a0.

Yamagata K, et al. Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3). Nature. 1996;384:455– 458. doi: 10.1038/384455a0.

Arya VB, et al. HNF4A mutation: switch from hyperinsulinaemic hypog- lycaemia to maturity-onset diabetes of the young and incretin response. Diabet Med. 2014;31:e11–e15. doi: 10.1111/dme.12369.

Fajans SS, et al. HNF4A mutation: switch from hyperinsulinaemic hypog- lycaemia to maturity-onset diabetes of the young and incretin response. Diabetologia. 2007;50:2600–2601.

Flanagan SE, et al. Diazoxide-responsive hyperinsulinaemic hypoglycae- mia caused by HNF4A gene mutations. Eur J Endocrinol. 2010;162:987– 992. doi: 10.1530/EJE-09-0861.

Kapoor RR, et al. Persistent hyperinsulinemic hypoglycemia and maturit- y-onset diabetes of the young due to heterozygous HNF4A mutations. Di- abetes. 2008;57:1659–1663. doi: 10.2337/db07-1657.

Stanik J, et al. Congenital hyperinsulinism and glycogenosis-like phenotype due to a novel HNF4A mutation. Diabetes Res Clin Pract. 2017;126:144– 150. doi: 10.1016/j.diabres.2017.02.014.

Stanescu DE, et al. Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A. J Clin Endocrinol Metab. 2012;97:E2026–E2030. doi: 10.1210/jc.2012-1356.

Rozenkova K, et al. High incidence of heterozygous ABCC8 and HNF1A mutations in Czech patients with congenital hyperinsulinism. J Clin En- docrinol Metab. 2015;100:E1540–E1549. doi: 10.1210/jc.2015-2763.

Fleury C, et al. Uncoupling protein-2: a novel gene linked to obesity and hyperinsulinemia. Nat Genet. 1997;15:269–272. doi: 10.1038/ng0397-269.

González-Barroso MM, et al. Mutations in UCP2 in congenital hype- rinsulinism reveal a role for regulation of insulin secretion. PLoS One. 2008;3:e3850. doi: 10.1371/journal.pone.0003850.

Krauss S, et al. A significant portion of mitochondrial proton leak in in- tact thymocytes depends on UCP2 expression. Proc Natl Acad Sci USA. 2002;99:118–122. doi: 10.1073/pnas.012410699.

Chan CB, et al. Increased uncoupling protein-2 levels in beta-cells are as- sociated with impaired glucose-stimulated insulin secretion: mechanism of action. Diabetes. 2001;50:1302–1310. doi: 10.2337/diabetes.50.6.1302.

McQuarrie I. Idiopathic spontaneously occurring hypoglycemia in infants; clinical significance of the problem and treatment. AMA Am J Dis Child. 1954;87:399–428.

Laver TW, et al. Analysis of large-scale sequencing cohorts does not sup- port the role of variants in UCP2 as a cause of hyperinsulinaemic hypogly- caemia. Hum Mutat. 2017;38:1442–1444. doi: 10.1002/humu.23289.

Henquin JC, et al. Congenital hyperinsulinism caused by hexokinase I exp- ression or a glucokinase-activating mutation in a subset of β-cells. Diabe- tes. 2013;62:1689–1696. doi: 10.2337/db12-1414.

Hussain K. Diagnosis and management of hyperinsulinaemic hypoglycae- mia of infancy. Horm Res. 2008;69:2–13. doi: 10.1159/000111789.

Goldfine AB, et al. Exaggerated incretin and insulin secretory responses to a mixed meal in patients with neuroglycopenia after gastric bypass surgery. J Clin Endocrinol Metab. 2007;92:4678–4685. doi: 10.1210/jc.2007-0918.

Neylon OM, et al. Successful subcutaneous glucagon use for persistent hy- poglycaemia in congenital hyperinsulinism. J Pediatr Endocrinol Metab. 2013;26:1157–1161. doi: 10.1515/jpem-2013-0115.

Mohnike K, et al. Long-term non-surgical therapy of severe persistent congenital hyperinsulinism with glucagon. Horm Res. 2008;70:59–64. doi: 10.1159/000129680.

Banerjee I, et al. Feeding problems are persistent in children with severe congenital hyperinsulinism. Front Endocrinol (Lausanne). 2016;7:8. doi: 10.3389/fendo.2016.00008.

Al-Shanafey S, et al. Food aversion among patients with persistent hyperin- sulinemic hypoglycemia of infancy. J Pediatr Surg. 2012;47:895–897. doi: 10.1016/j.jpedsurg.2012.03.002.

Welters A, et al. Long-term medical treatment in congenital hyperinsulinism: a descriptive analysis in a large cohort of patients from different cli- nical centers. Orphanet J Rare Dis. 2015;10:150. doi: 10.1186/s13023-015- 0367-x.

Maiorana A, et al. Focal congenital hyperinsulinism managed by medical treatment: a diagnostic algorithm based on molecular genetic screening. Clin Endocrinol (Oxf). 2014;81:679–688. doi: 10.1111/cen.12400.

Lord K, et al. Monogenic hyperinsulinemic hypoglycemia: current in- sights into the pathogenesis and management. Int J Pediatr Endocrinol. 2013;2013:3. doi: 10.1186/1687-9856-2013-3.

Nebesio TD, et al. Development of pulmonary hypertension in an infant treated with diazoxide. J Pediatr Endocrinol Metab. 2007;20:939–944. doi: 10.1515/jpem.2007.20.8.939.

Yildizdas D, et al. Pulmonary hypertension, heart failure and neutropenia due to diazoxide therapy. Adv Ther. 2008;25:515–519. doi: 10.1007/s12325- 008-0049-3.

Demirel F, et al. Pulmonary hypertension and reopening of the ductus ar- teriosus in an infant treated with diazoxide. J Pediatr Endocrinol Metab. 2011;24:603–605. doi: 10.1515/jpem.2011.238.

Timlin MR, et al. Development of pulmonary hypertension during treat- ment with diazoxide: a case series and literature review. Pediatr Cardiol. 2017;38:1247–1250. doi: 10.1007/s00246-017-1652-3.

Arya VB, et al. Hyperinsulinaemic hypoglycaemia. Horm Metab Res. 2014;46:157–170. doi: 10.1055/s-0034-1367063.

Katz MD, et al. Octreotide, a new somatostatin analogue. Clin Pharm. 1989;8:255–273.

Doyle ME, et al. Pharmacological agents that directly modulate insulin sec- retion. Pharmacol Rev. 2003;55:105–131. doi: 10.1124/pr.55.1.7.

Yorifuji T, et al. Efficacy and safety of long-term, continuous subcutaneous octreotide infusion for patients with different subtypes of KATP-channel hyperinsulinism. Clin Endocrinol (Oxf). 2013;78:891–897. doi: 10.1111/ cen.12075.

Wahid ST, et al. Partial tachyphylaxis to somatostatin (SST) analogues in a patient with acromegaly: the role of SST receptor desensitisation and cir- culating antibodies to SST analogues. Eur J Endocrinol. 2002;146:295–302. doi: 10.1530/eje.0.1460295.

Escorsell A, et al. Desensitization to the effects of intravenous octreo- tide in cirrhotic patients with portal hypertension. Gastroenterology. 2001;120:161–169. doi: 10.1053/gast.2001.20892.

Hawkes CP, et al. Late presentation of fulminant necrotizing enterocolitis in a child with hyperinsulinism on octreotide therapy. Horm Res Paediatr. 2016;86:131–136. doi: 10.1159/000443959.

Levy-Khademi F, et al. Octreotide-associated cholestasis and hepatitis in an infant with congenital hyperinsulinism. J Pediatr Endocrinol Metab. 2015;28:449–451. doi: 10.1515/jpem-2014-0119.

Demirbilek H, et al. Long-term follow-up of children with congenital hype- rinsulinism on octreotide therapy. J Clin Endocrinol Metab. 2014;99:3660– 3667. doi: 10.1210/jc.2014-1866.

Celik N, et al. Octreotide-induced long QT syndrome in a child with congenital hyperinsulinemia and a novel missense mutation (p.Met- 115Val) in the ABCC8 gene. Horm Res Paediatr. 2013;80:299–303. doi: 10.1159/000354666.

Koren I, et al. Hepatitis in an infant treated with octreotide for congeni- tal hyperinsulinism. J Pediatr Endocrinol Metab. 2013;26:183–185. doi: 10.1515/jpem-2012-0372.

Harris AG. Somatostatin and somatostatin analogues: pharmacokinetics and pharmacodynamic effects. Gut. 1994;35(Suppl 3):S1–S4. doi: 10.1136/ gut.35.3_suppl.s1.

McMahon AW, et al. Octreotide use and safety in infants with hyperin- sulinism. Pharmacoepidemiol Drug Saf. 2017;26:26–31. doi: 10.1002/ pds.4144.

Hawkes CP, et al. Late Presentation of Fulminant Necrotizing Enterocolitis in a Child with Hyperinsulinism on Octreotide Therapy. Horm Res Paedi- atr. 2016;86:131–136. doi: 10.1159/000443959.

Hosokawa Y, et al. Efficacy and safety of octreotide for the treatment of congenital hyperinsulinism: a prospective, open-label clinical trial and an observational study in Japan using a nationwide registry. Endocr J. 2017;64:867–880. doi: 10.1507/endocrj.EJ17-0024.

Petersen H, et al. Pharmacokinetic and technical comparison of Sandos- tatin® LAR® and other formulations of long-acting octreotide. BMC Res Notes. 2011;4:344. doi: 10.1186/1756-0500-4-344.

Shah P, et al. Use of Long-Acting Somatostatin Analogue (Lanreotide) in an Adolescent with Diazoxide-Responsive Congenital Hyperinsulinism and Its Psychological Impact. Horm Res Paediatr. 2015;84:355–360. doi: 10.1159/000439131.

Kühnen P, et al. Long-term lanreotide treatment in six patients with congenital hyperinsulinism. Horm Res Paediatr. 2012;78:106–112. doi: 10.1159/000341525.

Modan-Moses D, et al. Treatment of congenital hyperinsulinism with lanreotide acetate (Somatuline Autogel). J Clin Endocrinol Metab. 2011;96:2312–2317. doi: 10.1210/jc.2011-0605.

Al-Zubeidi H, et al. Successful use of long acting octreotide in two cases with Beckwith-Wiedemann syndrome and severe hypoglycemia. Int J Pe- diatr Endocrinol. 2014;2014:18. doi: 10.1186/1687-9856-2014-18.

Le Quan Sang KH, et al. Successful treatment of congenital hyperinsuli- nism with long-acting release octreotide. Eur J Endocrinol. 2012;166:333– 339. doi: 10.1530/EJE-11-0874.

Corda H, et al. Treatment with long-acting lanreotide autogel in early in- fancy in patients with severe neonatal hyperinsulinism. Orphanet J Rare Dis. 2017;12:108. doi: 10.1186/s13023-017-0653-x.

Giri D, et al. Fluoxetine-Induced Hypoglycaemia in a Patient with Conge- nital Hyperinsulinism on Lanreotide Therapy. J Clin Res Pediatr Endocri- nol. 2016;8:347–350. doi: 10.4274/jcrpe.2818.

Mergler S, et al. Characterization of voltage operated R-type Ca2+ channels in modulating somatostatin receptor subtype 2- and 3-dependent inhibiti- on of insulin secretion from INS-1 cells. Cell Signal. 2008;20:2286–2295. doi: 10.1016/j.cellsig.2008.08.015.

Baş F, et al. Successful therapy with calcium channel blocker (nifedipine) in persistent neonatal hyperinsulinemic hypoglycemia of infancy. J Pediatr Endocrinol Metab. 1999;12:873–878. doi: 10.1515/jpem.1999.12.6.873.

Durmaz E, et al. A combination of nifedipine and octreotide treatment in an hyperinsulinemic hypoglycemic infant. J Clin Res Pediatr Endocrinol. 2014;6:119–121. doi: 10.4274/jcrpe.1230.

Suprasongsin C, et al. Combined raw cornstarch and nifedipine as an addi- tional treatment in persistent hyperinsulinemic hypoglycemia of infancy. J Med Assoc Thai. 1999;82(Suppl 1):S39–S42.

Eichmann D, et al. Treatment of hyperinsulinaemic hypoglycaemia with nifedipine. Eur J Pediatr. 1999;158:204–206. doi: 10.1007/s004310051049.

Khawash P, et al. Nifedipine in Congenital Hyperinsulinism - A Case Report. J Clin Res Pediatr Endocrinol. 2015;7:151–154. doi: 10.4274/jcr- pe.1978.

Shanbag P, et al. Persistent hyperinsulinemic hypoglycemia of infan- cy--successful therapy with nifedipine. Indian J Pediatr. 2002;69:271–272. doi: 10.1007/BF02734240.

Güemes M, et al. Assessment of Nifedipine Therapy in Hyperinsulinemic Hypoglycemia due to Mutations in the ABCC8 Gene. J Clin Endocrinol Metab. 2017;102:822–830. doi: 10.1210/jc.2016-2916.

Yang SB, et al. Rapamycin induces glucose intolerance in mice by redu- cing islet mass, insulin content, and insulin sensitivity. J Mol Med (Berl). 2012;90:575–585. doi: 10.1007/s00109-011-0834-3.

Wullschleger S, et al. Molecular organization of target of rapamycin comp- lex 2. J Biol Chem. 2005;280:30697–30704. doi: 10.1074/jbc.M505553200.

Meyuhas O. Synthesis of the translational apparatus is regulated at the trans- lational level. Eur J Biochem. 2000;267:6321–6330. doi: 10.1046/j.1432- 1327.2000.01719.x.

Alexandrescu S, et al. Persistent hyperinsulinemic hypoglycemia of infan- cy: constitutive activation of the mTOR pathway associated with exocri- ne-islet transdifferentiation and therapeutic implications. Int J Clin Exp Pathol. 2010;3:691–705.

Wullschleger S, et al. TOR signaling in growth and metabolism. Cell. 2006;124:471–484. doi: 10.1016/j.cell.2006.01.016.

Leibiger IB, et al. Insulin exocytosis promotes insulin gene transcription via the insulin receptor/PI-3 kinase/p70 s6 kinase and CaM kinase pathways. Mol Cell. 1998;1:933–938. doi: 10.1016/S1097-2765(00)80093-3.

Newman JC, et al. Ketone bodies as signaling metabolites. Trends Endocri- nol Metab. 2014;25:42–52. doi: 10.1016/j.tem.2013.09.002.

Senniappan S, et al. Sirolimus therapy in infants with severe hyperinsu- linemic hypoglycemia. N Engl J Med. 2014;370:1131–1137. doi: 10.1056/ NEJMoa1310967.

Abraham MB, et al. Efficacy and safety of sirolimus in a neonate with per- sistent hypoglycaemia after near-total pancreatectomy for hyperinsulinae- mic hypoglycaemia. J Pediatr Endocrinol Metab. 2015;28:1391–1398. doi: 10.1515/jpem-2015-0094.

Minute B, et al. Sirolimus therapy in congenital hyperinsulinism: a suc- cessful experience beyond infancy. Pediatrics. 2015;136:e1373–e1376. doi: 10.1542/peds.2015-1132.

Ünal S, et al. A novel homozygous mutation in the KCNJ11 gene of a newborn with congenital hyperinsulinism and successful treatment with sirolimus. J Clin Res Pediatr Endocrinol. 2016;8:478–481. doi: 10.4274/jcr- pe.2773.

Méder Ü, et al. Severe hyperinsulinemic hypoglycemia in a neonate: response to sirolimus therapy. Pediatrics. 2015;136:e1369–e1372. doi: 10.1542/peds.2014-4200.

Shah P, et al. Sirolimus therapy in a patient with severe hyperinsulinaemic hypoglycaemia due to compound heterozygous mutation in the ABCC8 gene. J Pediatr Endocrinol Metab. 2015;28:695–699. doi: 10.1515/jpem- 2014-0371.

Korula S, et al. Sirolimus therapy for congenital hyperinsulinism in an in- fant with a novel homozygous KCNJ11 mutation. J Pediatr Endocrinol Me- tab. 2018;31:87–89. doi: 10.1515/jpem-2017-0238.

Al-Balwi R, et al. Sirolimus therapy in three infants with diffuse congeni- tal hyperinsulinism. J Pediatr Endocrinol Metab. 2017;30:1013–1017. doi: 10.1515/jpem-2016-0229.

Sankhala K, et al. The emerging safety profile of mTOR inhibitors, a no- vel class of anticancer agents. Target Oncol. 2009;4:135–142. doi: 10.1007/s11523-009-0107-z.

Szymanowski M, et al. mTOR inhibitors for the treatment of severe conge- nital hyperinsulinism: perspectives on limited therapeutic success. J Clin Endocrinol Metab. 2016;101:4719–4729. doi: 10.1210/jc.2016-2711.

De León DD, et al. Role of glucagon-like peptide-1 in the pathogenesis and treatment of diabetes mellitus. Int J Biochem Cell Biol. 2006;38:845–859. doi: 10.1016/j.biocel.2005.07.011.

Thorens B. Expression cloning of the pancreatic beta cell receptor for the gluco-incretin hormone glucagon-like peptide 1. Proc Natl Acad Sci USA. 1992;89:8641–8645. doi: 10.1073/pnas.89.18.8641.

Gromada J, et al. Cellular regulation of islet hormone secretion by the inc- retin hormone glucagon-like peptide 1. Pflugers Arch. 1998;435:583–594. doi: 10.1007/s004240050558.

Renström E, et al. Protein kinase A-dependent and -independent sti- mulation of exocytosis by cAMP in mouse pancreatic B-cells. J Physiol. 1997;502:105–118. doi: 10.1111/j.1469-7793.1997.105bl.x.

Edwards CM, et al. Glucagon-like peptide 1 has a physiological role in the control of postprandial glucose in humans: studies with the antagonist exendin 9-39. Diabetes. 1999;48:86–93. doi: 10.2337/diabetes.48.1.86.

Schirra J, et al. Exendin(9-39)amide is an antagonist of glucagon-like pep- tide-1(7-36)amide in humans. J Clin Invest. 1998;101:1421–1430. doi: 10.1172/JCI1349.

De León DD, et al. Exendin-(9-39) corrects fasting hypoglycemia in SUR-1-/- mice by lowering cAMP in pancreatic beta-cells and inhibiting insulin secretion. J Biol Chem. 2008;283:25786–25793. doi: 10.1074/jbc. M804372200.

Calabria AC, et al. GLP-1 receptor antagonist exendin-(9-39) elevates fas- ting blood glucose levels in congenital hyperinsulinism owing to inactiva- ting mutations in the ATP-sensitive K+ channel. Diabetes. 2012;61:2585– 2591. doi: 10.2337/db12-0166.

Ng CM, et al. Population pharmacokinetics of exendin-(9-39) and clinical dose selection in patients with congenital hyperinsulinism. Br J Clin Phar- macol. 2017. doi: 10.1111/bcp.13463.

Nehlig A, et al. Glucose and ketone body utilization by the brain of neonatal rats. Prog Neurobiol. 1993;40:163–221. doi: 10.1016/0301-0082(93)90022- K.

Owen OE, et al. Brain metabolism during fasting. J Clin Invest. 1967;46:1589–1595. doi: 10.1172/JCI105650.

Yudkoff M, et al. Ketogenic diet, amino acid metabolism, and seizure cont- rol. J Neurosci Res. 2001;66:931–940. doi: 10.1002/jnr.10083.

Yamada KA, et al. Ketogenic diet reduces hypoglycemia-induced neuronal death in young rats. Neurosci Lett. 2005;385:210–214. doi: 10.1016/j.neu- let.2005.05.038.

Maiorana A, et al. Ketogenic diet in a patient with congenital hyperinsu- linism: a novel approach to prevent brain damage. Orphanet J Rare Dis. 2015;10:120. doi: 10.1186/s13023-015-0342-6.

Sempoux C, et al. Focal and diffuse forms of congenital hyperinsulinism: the keys for differential diagnosis. Endocr Pathol. 2004;15:241–246. doi: 10.1385/EP:15:3:241.

Verkarre V, et al. Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperin- sulinism in focal adenomatous hyperplasia. J Clin Invest. 1998;102:1286– 1291. doi: 10.1172/JCI4495.

Sempoux C, et al. Morphological mosaicism of the pancreatic islets: a no- vel anatomopathological form of persistent hyperinsulinemic hypoglyce- mia of infancy. J Clin Endocrinol Metab. 2011;96:3785–3793. doi: 10.1210/ jc.2010-3032.

Garg PK, et al. Pancreatic uptake and radiation dosimetry of 6-[18F] fluoro-L-DOPA from PET imaging studies in infants with congenital hyperinsulinism. PLoS One. 2017;12:e0186340. doi: 10.1371/journal. pone.0186340.

Hardy OT, et al. Accuracy of [18F]fluorodopa positron emission tomog- raphy for diagnosing and localizing focal congenital hyperinsulinism. J Clin Endocrinol Metab. 2007;92:4706–4711. doi: 10.1210/jc.2007-1637.

Christiansen CD, et al. 18F-DOPA PET/CT and 68Ga-DOTANOC PET/ CT scans as diagnostic tools in focal congenital hyperinsulinism: a blinded evaluation. Eur J Nucl Med Mol Imaging. 2017. doi: 10.1007/s00259-017- 3867-1.

Han B, et al. Enhanced Islet Cell Nucleomegaly Defines Diffuse Congenital Hyperinsulinism in Infancy but Not Other Forms of the Disease. Am J Clin Pathol. 2016;145:757–768. doi: 10.1093/ajcp/aqw075.

Zhang W, et al. A compound heterozygous mutation of ABCC8 gene cau- sing a diazoxide-unresponsive congenital hyperinsulinism with an atypical form: Not a focal lesion in the pancreas reported by ¹⁸F-DOPA-PET/CT scan. Gene. 2015;572:222–226. doi: 10.1016/j.gene.2015.07.012.

Kühnen P, et al. Occurrence of giant focal forms of congenital hyperinsuli- nism with incorrect visualization by (18) F DOPA-PET/CT scanning. Clin Endocrinol (Oxf). 2014;81:847–854. doi: 10.1111/cen.12473.

Capito C, et al. The surgical management of atypical forms of congenital hyperinsulinism. Semin Pediatr Surg. 2011;20:54–55. doi: 10.1053/j.sem- pedsurg.2010.10.003.

Mohnike K, et al. [18F]-DOPA positron emission tomography for preope- rative localization in congenital hyperinsulinism. Horm Res. 2008;70:65– 72. doi: 10.1159/000137655.

Otonkoski T, et al. Noninvasive diagnosis of focal hyperinsulinism of infancy with [18F]-DOPA positron emission tomography. Diabetes. 2006;55:13–18.

Rahier J, et al. Partial or near-total pancreatectomy for persistent neonatal hyperinsulinaemic hypoglycaemia: the pathologist’s role. Histopathology. 1998;32:15–19. doi: 10.1046/j.1365-2559.1998.00326.x.

Arya VB, et al. Pancreatic endocrine and exocrine function in children fol- lowing near-total pancreatectomy for diffuse congenital hyperinsulinism. PLoS One. 2014;9:e98054. doi: 10.1371/journal.pone.0098054.

Beltrand J, et al. Glucose metabolism in 105 children and adolescents after pancreatectomy for congenital hyperinsulinism. Diabetes Care. 2012;35:198–203. doi: 10.2337/dc11-1296.

Ludwig A, et al. Glucose metabolism and neurological outcome in conge- nital hyperinsulinism. Semin Pediatr Surg. 2011;20:45–49. doi: 10.1053/j. sempedsurg.2010.10.005.

Lord K, et al. High Risk of Diabetes and Neurobehavioral Deficits in Indi- viduals With Surgically Treated Hyperinsulinism. J Clin Endocrinol Metab. 2015;100:4133–4139. doi: 10.1210/jc.2015-2539.

Meissner T, et al. Long-term follow-up of 114 patients with congenital hype- rinsulinism. Eur J Endocrinol. 2003;149:43–51. doi: 10.1530/eje.0.1490043.

Menni F, et al. Neurologic outcomes of 90 neonates and infants with per- sistent hyperinsulinemic hypoglycemia. Pediatrics. 2001;107:476–479. doi: 10.1542/peds.107.3.476.

Ludwig A, et al. Formal Neurocognitive Testing in 60 Patients with Conge- nital Hyperinsulinism. Horm Res Paediatr. 2017. doi: 10.1159/000481774.

Langdon DR, Stanley CA, Sperling MA. Hypoglycemia in the infant and child. In: Sperling MA, ed Pediatric Endocrinology. Philadelphia: Saunders Elsevier Inc., 2008, 422-444

Farrag HM and Cowett RM. Hypoglycemia in the newborn. In: Lifshitz F,ed. Pediatric Endocrinology. New York: Marcel Dekker Inc., 2003, 541-545

Sperling MA. Hypoglycemia. In: Kliegman RM, Behrman RE., Jenson HB, Stanton BF, eds., Nelson Textbook of Pediatrics Philadelphia: Saunders El- sevier Inc., 2007, 655-669

Darendeliler F. Hipoglisemi. Pediatrik Endokrinoloji. Günöz H, Öcal G, Yordam N, Kurtoğlu s, ed., Kalakan matbaacılık, Ankara, 2003, 457-484

Semiz S. Hipoglisemi. Temel Pediatri. Hasanoğlu E, Düşünsel R, Bideci A ed. Güneş Kitabevleri, Ankara, 2010, 1190-1196

Arnoux JB, Verkarre V, Saint-Martin C, Montravers F, Brassier A, Valayan- nopoulos V, Brunelle F, Fournet JC, Robert JJ, Aigrain Y, Bellanné-Chante- lot C, de Lonlay P. Congenital hyperinsulinism: current trends in diagnosis and therapy. Orphanet J Rare Dis.2011; 3;6:63.

Hovorka R, Chassin LJ, Ellmerer M, Plank J, Wilinska ME. A simulation model of glucose regulation in the critically ill. Physiol Meas.2008; 29:959- 978.

Moghissi ES, Korytkowski MT, DiNardo M, Einhorn D, Hellman R, Hirs- ch IB, Inzucchi SE, Ismail-Beigi F, Kirkman MS, Umpierrez GE; American Association of Clinical Endocrinologists; American Diabetes Association. American Association of Clinical Endocrinologists and American Diabetes Association consensus statement on inpatient glycemic control. Diabetes Care.2009; 32:1119-1131.

Mali M, Bagry H, Vas L. Anaesthetic management of a case of nesidioblas- tosis for subtotal pancreatectomy. Paediatr Anaesth. 2002;12:80-84.

Muir JJ, Endres SM, Offord K, van Heerden JA, Tinker JH. Glucose mana- gement in patients undergoing operation for insulinoma removal. Anest- hesiology.1983; 59:371-375.

Placzkowski KA, Vella A, Thompson GB, Grant CS, Reading CC, Char- boneau JW, Andrews JC, Lloyd RV, Service FJ. Secular trends in the pre- sentation and management of functioning insulinoma at the Mayo Clinic, 1987-2007. J Clin Endocrinol Metab 2009;94:1069-1073.

Pender JW, Busso LV: Diseases of the endocrine system, anesthesia and un- common diseases. Edited by Katz J, Benumof J, Kadis LB. Philedelphia, WB saunders, 1981, 213-215

Suffecool SL. Anesthetic management for insulinoma resection. Contemp Anesth Pract. 1980;3:11-317.

Tutt GO Jr, Edis AJ, Service FJ, van Heerden JA. Plasma glucose moni- toring during operation for insulinoma: a critical reappraisal. Surgery. 1980;88:351-356.

Gingerich R, Wright PH, Paradise RR. Effects of halothane on glucose-sti- mulated insulin secretion and glucose oxidation in isolated rat pancreatic islets. Anesthesiology.1980; 53:219-22.

Ewart RB, Rusy BF, Bradford MW. Effects of enflurane on release of insulin by pancreatic islets in vitro. Anesth Analg.1981; 60:878-884.

Langdon DR, Stanley CA, Sperling MA. Hypoglycemia in the infant and child . In: Sperling MA (ed). Pediatric Endocrinology, Philadephia:Saun- ders, 2008: 422-443.

Sperling MA. Hypoglycemia. In: Kleigman RM, Jenson HB, Behrman RE, Stanton BF (eds). Nelson Textbook of Pediatrics, Philadelphia:Saunders El- sevier, 2007:655-669.

Lteif AN, Schwenk WF. Hypoglycemia in infants and children. Endocrinol Metab Clin North Am 1999;28:619-46.

Hoe FM. Hypoglycemia in infants and children. Adv Pediatr 2008; 55:367- 384.

Lang TF. Update on investigating hypoglycemia in childhood. Am Clin Bi- ochem 2011; 48:200-211.

Menni F, de Lonlay P, Sevin C, et al. Neurologic outcomes of 90 neona- tes and infants with persistent hyperinsulinemic hypoglycemia. Pediatrics 2001; 107:476-479.

Matyka K, Ford-Adams M, Dunger DB. Hypoglycemia and counterregula- tion during childhood. Horm Res 2002; 57 (Suppl 1):85-90.

Jorgenson JO, Vestergaard E, Gormsen L, et al. Metabolic consequences of GH deficiency. J Endocrinol Invest 2005; 28:57-51.

Laron Z. Hypoglycemia due to hormone deficiencies. J Pediatr Endocrinol Metab 1998; 11 (Suppl 1): 117-120.

Dekelbab BH, Sperling MA. Hyperinsulinemic hypoglycemia of infancy: the challenge continues. Diabetes Metab Res Rev 2004; 20:189-195.

Hardy OT, Hernandez-Pampaloni M, Saffer JR, et al. Diagnosis and locali- zation of focal congenital hyperinsulinism by 18F-fluorodopa PET scan. J Pediatr 2007; 150:140-145.

Arnoux JB, de Lonlay P, Ribeiro MJ, et al. Congenital hyperinsulinism. Ear- ly Hum Dev 2010; 86:287-294.

Thomas PM, Cote GJ, Wohlk N, et al. Mutations in the sulfanylurea recep- tor gene in familial persistent hyperinsulinemic hypoglycemia of infancy. Science 1995; 268:426-429.

Palladino AA, Stanley CA. The hyperinsulinism / hyperammonemia synd- rome. Rev Endocr Metab Disord 2010; 11:171-178.

Cuesta-Munoz AL, Huopio H, Otonkoski T, et al. Severe persistent hype- rinsulinemic hypoglycemia due to a de nove glucokinase mutation. Diabe- tes 2004 53; 2164-2168.

Stanley CA, Thornton PS, Ganguly A, et al. Preoperative evaluation of in- fants with focal or diffuse congenital hyperinsulinism by introvenous acute insulin response tests and selective pancreatic arterial calcium stimulation. J Clin Endocrinol Metab 2004; 89:288-296.

Elias D, Cohen IR, Schechter Y, Spirer Z, Golander A. Antibodies to insulin receptor followed by anti-idiotype: Antibodies to insulin in child with hypoglycemia. Diabetes 1987; 36:348-354.

Lamesch C, neumann S, Pfaffle R, Kiess W, Paschke R. Adrenocorticotro- pe deficiency with clinical evidence for late onset in combined pituitary hormone deficiency caused by homozygous 301-302delAG mutation of the PROP1 gene. Pituitary 2002; 5:163-168.

Mendiratta MS, Yang Y, Balazs AE, et al. Early onset obesity and adrenal insufficiency associated with a homozygous POMC mutaion. Int J Pediatr Endocrinol 2011;5:Epub 2011 Jul 6.

Weinstein DA, Correia CE, Saunders AC, Wolfsdorf JI. Hepatic glycogen synthase deficiency: an infrequently recognized cause of ketotic hypogly- cemia. Mol Genet Metab 2006; 87:284-288.

Ozen H. Glucogen storage diseases: new perspectives. World J Gastroente- rol 2007; 13:2541-2553.

Burchell A, Jung RT, Lang CC, Bennet W, Shepherd AN. Diagnosis of type 1a and type 1c glycogen storage disease in adults. Lancet 1987; 1:1059- 1062.

Lei KJ, Pan CJ, Shelly LL, Liu JL, Chou JY. Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glucogen storage disease type 1a. J Clin Invest 1994; 93:1994-1999.

Santer R, Groth S, Kinner M, et al. The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome. Hum Genet 2002; 110:21-29.

Ng D, Ferry RJ, Weinzimer SA, Stanley CA, Levitt Katz LE. Acarbose treat- ment of postprandial hypoglycemia in children after Nissen fundoplicati- on. J Pediatr 2001; 139:877-879.

Hofeldt FD. Reactive hypoglycemia. Endocrinol Metab Clin North Am 1989; 18:185-201.

Achoki R, Opiyo N, English M. Mini-review: Management of hypoglyce- mia in children aged 0-59 months. J Trop Pediatr 2010;56:227-234.

Rozance PJ, Hay WW. Describing hypoglycemia - definition or operational threshold? Early Hum Dev. 2010 ; 86: 275–280.

Hoseth E, Joergensen A, Ebbesen F, Moeller M. Blood glucose levels in a population of healthy, breast fed, term infants of appropriate size for gesta- tional age. Arch Dis Child Fetal Neonatal Ed. 2000;83(2):F117–F119

Cornblath M, Hawdon JM, Williams AF, et al. Controversies regarding de- finition of neonatal hypoglycemia: suggested operational thresholds. Pedi- atrics. 2000;105: 1141–1145

Cornblath M, Ichord R. Hypoglycemia in the neonate. Semin Perinatol. 2000;24:136 –149

Hawdon JM, Ward Platt MP, Aynsley-Green A.Patterns of metabolic adap- tation for preterm and term infants in the first neonatal week. Arch Dis Child. 1992;67: 357–365

Kalhan S, Parmimi P. Gluconeogenesis in the fetus and neonate. Semin Pe- rinatol.2000;24:94 –106

Swenne I, Ewald U, Gustafsson J, Sandberg F, Ostenson C. Inter-relations- hip betweenserum concentrations of glucose, glucagon and insulin during the first two days of life in healthy newborns. Acta Paediatr. 1994; 83:915– 919

Cowett RM, Loughead JL. Neonatal glucose metabolism.in: Volpe JJ(ed), Neurology of the Newborn . Phyladelphia: Saunders Elsevier, 2008 s. 615

Harris DL, Weston PJ, Williams CE, Pleasants AB, Battin MR, Spooner CG, Harding JE. Cot-side electroencephalography monitoring is not cli- nically useful in the detection of mild neonatal hypoglycemia. J Pediatr. 2011;159:755-762.

Nadeem M, Murray DM, Boylan GB, Dempsey EM, Ryan CA, Early blood glucose profile and neurodevelopmental outcome at t-16.wo years in neo- natal hypoxic-ischaemic encephalopathy. BMC Pediatrics 2011, 11:10

Harteman JC, Groenendaal F, Kwee A, Welsing PM, Benders MJ, de Vries LS. Risk factors for perinatal arterial ischaemic stroke in full-term infants: a case-control study. Arch Dis Child Fetal Neonatal Ed. 2012 Mar 24. [Epub ahead of print]

Flores-le Roux JA, Sagarra E, Benaiges D, Hernandez-Rivas E, Chillaron JJ, Puig de Dou J, Mur A, Lopez-Vilchez MA, Pedro-Botet J. A prospective evaluation of neonatal hypoglycaemia in infants of women with gestational diabetes mellitus. Diabetes Res Clin Pract . 2012 Apr 24. [Epub ahead of print]

Silva JC, Fachin DR, Coral ML, Bertini AM. Perinatal impact of the use of metformin and glyburide for the treatment of gestational diabetes mellitus. J Perinat Med. 2012 ;40:225-8.

García-Patterson A, Aulinas A, María MÁ, Ubeda J, Orellana I, Ginovart G, Adelantado JM, de Leiva A, Corcoy R. Maternal body mass index is a predictor of neonatal hypoglycemia in gestational diabetes mellitus. J Clin Endocrinol Metab. 2012 ;97:1623-8.

Mimouni FB, Merlob P, Dollberg S, Mandel D; Israeli Neonatal Associati- on. Neonatal polycythaemia: critical review and a consensus statement of the Israeli Neonatology Association. Acta Paediatr. 2011 ;100:1290-6.

Takci S, Esenboga S, Gonc N, Yigit S.Persistent hypoglycemia caused by um- bilical arterial catheterization. J Pediatr Endocrinol Metab. 2011;24:1081-3.

Brumbaugh JE, Morgan S, Beck JC, Zantek N, Kearney S, Bendel CM, Ro- berts KD. Blueberry muffin rash, hyperbilirubinemia, and hypoglycemia: a case of hemolytic disease of the fetus and newborn due to anti-Kp(a). J Perinatol. 2011 ;31:373-6.

Çoban D, Kurtoğlu S, Akın MA, Akçakuş M, Güneş T. Neonatal episodic hypoglycemia:a finding of valproic acid withdrawal J Clin Res Pediatr En- docrinol 2010;2:92-94 .

Gisslen T, Nathan B, Thompson T, Rao R. Hyperinsulinism associated with gestational exposure to bupropion in a newborn infant. J Pediatr Endocri- nol Metab. 2011;24:819-22.

Svensson T, Granath F, Stephansson O, Kieler H. Birth outcomes among women exposed to neuraminidase inhibitors during pregnancy. Pharma- coepidemiol Drug Saf. 2011 ;20:1030-4.

Kurtoğlu S, Sarıcı D, Akın MA, Daar G, Korkmaz L, Memur F. Fetal adre- nal suppression due to maternal corticosteroid use: case report. J Clin Res Pediatr Endocrinol 2011;3:160-162 .

Torchinsky MY, Wineman R, Moll GW. Severe hypoglycemia due to iso- lated ACTH deficiency in children: a new case report and review of the literature . Int J Pediatr 2011, Article ID 784867.

23) Pham LL, Garot C, Brue T, Brauner R. Clinical, biological and genetic analy- sis of 8 cases of congenital isolated adrenocorticotrophic hormone (ACTH) deficiency. PLoS One . 2011 ;6 : e26516

Jain V, Kannan L, Kumar P. Congenital hypopituitarism presenting as dila- ted cardiomyopathy in a child. J Pediatr Endocrinol Metab. 2011;24:767-9.

Kurtoğlu S, Kondolot M, Mazicioğlu MM, Hatipoğlu N, Akin MA, Ak- yildiz B.Growth hormone, insulin like growth factor-1, and insulin-like growth factor-binding protein-3 levels in the neonatal period: a prelimi- nary study. J Pediatr Endocrinol Metab. 2010 ;23:885-9.

Nobre S, Grazina M, Silva F, Pinto C, Gonçalves I, Diogo L. Neonatal liver fa- ilure due to deoxyguanosine kinase deficiency. BMJ 2012 ;. bcr1220115317. doi: 10.1136/bcr.12.2011.5317.

Fellman V, Kotarsky H. Mitochondrial hepatopathies in the newborn peri- od. Semin Fetal Neonatal Med. 2011;16:222-8.

Sarafoglou K, Matern D, Redlinger-Grosse K, Bentler K, Gaviglio A, Har- ding CO, Rinaldo P. Siblings with mitochondrial acetoacetyl-CoA thiolase deficiency not identified by newborn screening. Pediatrics. 2011 ;128:e246- 50.

Yahyaoui R, Espinosa MG, Gómez C, Dayaldasani A, Rueda I, Roldán A, Ugarte M, Lastra G, Pérez V. Neonatal carnitine palmitoyltransferase II deficiency associated with Dandy-Walker syndrome and sudden death. Mol Genet Metab. 2011 ;104:414-6.

Eminoglu TF, Tumer L, Okur I, Ezgu FS, Biberoglu G, Hasanoglu A. Very long-chain acyl CoA dehydrogenase deficiency which was accepted as in- fanticide. Forensic Sci Int. 2011 ;210:e1-3.

Feillet F, Ogier H, Cheillan D, Aquaviva C, Labarthe F, Baruteau J, Chabrol B, de Lonlay P, Valayanopoulos V, Garnotel R, Dobbelaere D,Briand G, Je- annesson E, Vassault A, Vianey-Saban C; SFEIM (Société française pour l’étude des erreurs innées du métabolisme). [Medium-chain acyl-Co- A-dehydrogenase (MCAD) deficiency: French consensus forneonatal sc- reening, diagnosis, and management]. Arch Pediatr. 2012 ;19:184-93.

Mercimek-Mahmutoglu S, Horvath GA, Coulter-Mackie M, Nelson T, Wa- ters PJ, Sargent M, Struys E, Jakobs C, Stockler-Ipsiroglu S, Connolly MB. Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxi- ne-dependent epilepsy. Pediatrics 2012 ;129:e1368-72.

Oguz SS, Ergenekon E, Tümer L, Koç E, Turan O, Onal E, Türkyilmaz C, Atalay Y.A rare case of severe lactic acidosis in a preterm infant: lack of thiamine during total parenteral nutrition. J Pediatr Endocrinol Metab. 2011;24:843-5.

Arnoux JB, Verkarre V, Saint-Martin C, Montravers F, Brassier A, Valayan- nopoulos V, Brunelle F, Fournet JC, Robert JJ, Aigrain Y,Bellanné-Chante- lot C, de Lonlay P.Congenital hyperinsulinism: current trends in diagnosis and therapy. Orphan J Rare Dis 2011, 6:63

Oçal G, Flanagan SE, Hacihamdioğlu B, Berberoğlu M, Siklar Z, Ellard S, Savas Erdeve S, Okulu E, Akin IM, Atasay B, Arsan S, Yağmurlu A. Cli- nical characteristics of recessive and dominant congenital hyperinsulinism due to mutation(s) in the ABCC8/KCNJ11 genes encoding the ATP-sen- sitive potasium channel in the pancreatic beta cell. J Pediatr Endocrinol Metab. 2011;24:1019-23.

Pingul MM, Hughes N, Wu A, Stanley CA, Gruppuso PA.Hepatocyte nuc- lear factor 4α gene mutation associated with familial neonatal hyperinsuli- nism and maturity-onset diabetes of the young. J Pediatr. 2011 ;158:852-4.

Faustino EV, Hirshberg EL, Bogue CW. Hypoglycemia in critically ill child- ren. J Diabetes Sci Technol. 2012 ;6:48-57.

McGowan JE. Carbohydrate metabolism disorders.in: Thureen PJ, Hay WW (eds)Neonatal Nutrition and Metabolism Philadelphia: SaundersEl- sevier, 2006.s. 454.

Diehl-Svrjcek BC, Price-Douglas W, Flagg J. Neonatal glucose testing via prompted intervention during the pretransport phase of care. Adv Neona- tal Care. 2011 ;11:340-8.

Korkmaz A, Tekşam O, Yurdakök M, Yiğit S, Tekinalp G. Fetal malnutrition and its impacts on neonatal outcome in preterm infants. Turk J Pediatr. 2011;53:261-8.

Vercellino GF, Cremonte M, Carlando G, Colivicchi M, Crivelli S, Ricotti A, Sabatini M, Temporini F, Lera R, Pesce F, Transient neonatal hyperinsu- linemic hypoglycemia and neurological outcome: a case report. Minerva Pediatr. 2011 ;63:111-4. 42. Aslan Y, Dinc H. MR findings of neonatal hy- poglycemia. AJNR Am J Neuroradiol 1997; 18: 994-996.

Per H, Kumandas S, Coskun A, Gümüs H, Oztop D. Neurologic sequelae of neonatal hypoglycemia in Kayseri,Turkey. J Child Neurol 2008; 23: 1406- 1412.

Tam EW, Haeusslein LA, Bonifacio SL, Glass HC, Rogers EE, Jeremy RJ, Barkovich AJ, Ferriero DM.Hypoglycemia is associated with increased risk for brain injury and adverse neurodevelopmental outcome in neonates at risk for encephalopathy.J Pediatr. 2012 Feb 3. [Epub ahead of print].

Green AA, Solte’sz G: The infant of a diabetic mother: In: Textbook of Ne- onatology. Roberton NCR (ed). Churchill Living ston p. 333-38,1992.

Cowent RM, Schwartz R: The infant of the diabetic mother. Pediatr Clin North Am 29:11213-2,1982.

Pildes RS: Infants of diabetic mothers. In: Neonatology, Pa thophysiology and management of the newborn. Avery GB (ed). Philadelphia, Lippincott and Co 332-36,1987A.

Ballard RA: Diabetes mellitus. In: Diseases of the newborn. Taeosch HW, Ballard RA, Avery ME (eds.) W.B. Saunders Com pany, Philadelphia p. 66 71-1991.

Weingold AB: Diabetes in pregnancy. In: Given JR (ed). En docrinology of pregnancy. Chicago, Year book medical publish ers 1981.

Koroners SB, Ellzey HSB: Neonatal Decision Making. B.C. Decker. Am Im- pirint of Mosby Year Book Inc p. 8-9,1993.

Hollingsworth AR: Endocrin and metabolic homeostasis in di abetic preg- nancy. Clin Perinatol 10:593-98,1983.

Widncss JA, Schwartz HC, Thompson E, et al: Hemoglobin Aic in diabetic pregnancy. An indication of glucose control and fetal size. BR J Obstet Gy- necol 85:812-19,1978.

Pederson 0-Beck-Nielsen H, Klebe JC: Insulin receptors in the pregnant diabetic and her newborn. J Clin Endocrinol Metab 53:1160-66,1980.

Cowett RR: Hypoglisemia and hyperglisemia in the newbern. In: Fetal and Neonatal Physiology. Polin RA, Fox WW (eds). W. Saunders Company. Philadelphia 440-44,1992.

Block MB, Pildes RS-Mossabhov NA, et al: C-peptide immunoraactivity (CRP): A new method for studying infants of in sulin-treated diabetic mo- thers. Pediatrics 53:923-28.

Brans YW, Huff RW, Shannon BL, et al: Maternal diabetes and neonatal macrosomia. Postpartum maternal HbAic levels and neonatal hypoglyce- mia. Pediatrics 70:576-81,1982.

Roller MD, Kaplan S: Hypertrophic cardiomyopathy in in fants of diabetic mothers, an update. Am J Perinatol 5:353-58, 1988.

Breitweser JA, Mayer RA, Sperling MA, et al: Cardiac sep tal hypertrophy in hyperinsulinemic infants. J Pediatr 96:535-41.

Becerra JE, Khoury MJ, Cordero JF, Erickson JD: Dia betes mellitus during pregnancy and the risks for spesific birth de fects: A population-based case control study. Pediatrics 85:1-7, 1990.

Mills JL, Knoop RH, Simpson JL, et al: Lack of relation of increased mal- formation rates in infants of diabetic mothers to glycemic control during organogenesis. New Engl J Med 318:671- 76,1988.

Edwards JRG, Newall DR: Relaxin as an aetilogial factor in diabetic embri- yopathy. Lancet 1428-30, 1988.

Cousins L: Congenital anomalies among lDM. Am J Obstet Gynecol 147:333-36,1983.

Mimouni F, TSang RC, Herta Berg VS, Miodovnik M: Polycyhtemia, hypo- magnesemia and a hypoglcemia in infants of diabeteic mothers. Am J Dis Child 140:798-800, 1986.

Cruikshank DP, Pitkin RM, Varner M, et al: Calcium me tabolism in diabe- tic mothers, fetus and newborn infants. Am J Ob stet Gynecol 145:1010-15, 1983.

Kuhlc Anderson GE, Hertel J, Mölsted-Pedersen L: Meta bolic events in infants of diabetic mothers during first 24 hours af ter birth. Act Pediatr Scand 71:19-25,1982.

Spellacy WN: Evaluation and management of diabetes in pregnancy. Adv Clin Obstet Gynecol 2:34-38,1984.

Riley WJ, Maclaren NK, Silverstein JH: The predictability of insulin-depen- dent diabetes mellitus. Adv Pediatr 35:167-73, 1988.

Persson B, Geniz J, Moller E: Follow up of children of insu lin dependent (Type 1) and gestational diabetic mothers. Acta Pe diatr Scand 6:778- 82,1984.

Thornton PS, Stanley CA, De Leon DD, Harris D, Haymond MW, Hussain K, et al. Recommendations from the Pediatric Endocrine Society for eva- luation and management of persistent hypoglycemia in neonates, infants, and children. J Pediatr. 2015;167(2):238-245.

Grünert SC, et al. International guideline on the diagnosis, treatment, and monitoring of long-chain fatty acid oxidation disorders (LC-FAOD). J In- herit Metab Dis. 2026. doi:10.1002/jimd.70251.

Clinical manifestations and management of fatty acid oxidation disorders. Rev Endocr Metab Disord. 2020. doi:10.1007/s11154-020-09568-3. PMID: 32654032. 2020 Dec;21(4):479-493

Irene J Chang, MD, MSc, Christina Lam, MD, and Jerry Vockley, MD, PhD. Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. In: Gene- Reviews®. Seattle (WA): University of Washington, Seattle. Bookshelf URL: https://www.ncbi.nlm.nih.gov/books/

Wanders RJA, et al. Mitochondrial fatty acid oxidation disorders: laboratory diagnosis, pathogenesis, and the complicated route to treatment. J Lipid Atheroscler. 2020 Sep;9(3):313-333 https://doi.org/10.12997/jla.2020.9.3.313 pISSN 2287-2892·eISSN 2288-2561

Nancy D Leslie, MD1 and Sofia Saenz-Ayala, MD2 Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. In: GeneReviews®. Seattle (WA): University of Washington, Seattle PMID: 20301763 Bookshelf ID: NBK6816 Bookshelf URL: https://www.ncbi.nlm.nih.gov/books/

Carnitine-Acylcarnitine Translocase Deficiency. In: GeneReviews®. Seattle (WA): University of Washington, Seattle. GeneReviews. Bookshelf URL: https://www.ncbi.nlm.nih.gov/books/

El-Hattab Ayman W, Primary Carnitine Deficiency. In: GeneReviews®. Seattle (WA): University of Washington, Seattle. GeneReviews. PMID: 22420015 Bookshelf ID: NBK84551

Approach to the neonate with hypoglycemia. PMID: 38629854 PMCID: PMC11319000 DOI: 10.1210/clinem/dgae267