Uneingeschränkter Zugang

Clinical Presentation of Inherited Metabolic Diseases in Newborns Hospitalised in an Intensive Care Unit


Zitieren

Morava E, Rahman S, Peters V, Baumgartner MR, Patterson M, Zschocke J. Quo vadis: the re-definition of “inborn metabolic diseases.” J Inherit Metab Dis. 2015;38(6):1003–6. doi: 10.1007/s10545-015-9893-x MoravaE RahmanS PetersV BaumgartnerMR PattersonM ZschockeJ Quo vadis: the re-definition of “inborn metabolic diseases.” J Inherit Metab Dis. 2015 38 6 1003 6 10.1007/s10545-015-9893-x Open DOISearch in Google Scholar

IEMbase—Inborn Errors of Metabolism Knowledgebase 2022. Available from: http://www.iembase.org/. Accessed on 2 December 2022. IEMbase—Inborn Errors of Metabolism Knowledgebase 2022 Available from: http://www.iembase.org/. Accessed on 2 December 2022. Search in Google Scholar

Waters D, Adeloye D, Woolham D, Wastnedge E, Patel S, Rudan I. Global birth prevalence and mortality from inborn errors of metabolism: a systematic analysis of the evidence. J Glob Health. 2018;8(2):021102. doi: 10.7189/jogh.08.021102 WatersD AdeloyeD WoolhamD WastnedgeE PatelS RudanI Global birth prevalence and mortality from inborn errors of metabolism: a systematic analysis of the evidence J Glob Health. 2018 8 2 021102 10.7189/jogh.08.021102 Open DOISearch in Google Scholar

Vilarinho L, Rocha H, Sousa C, Marcão A, Fonseca H, Bogas M, et al. Four years of expanded newborn screening in Portugal with tandem mass spectrometry. J Inherit Metab Dis. 2010;33(Suppl 3):S133–8. doi: 10.1007/s10545-010-9048-z VilarinhoL RochaH SousaC MarcãoA FonsecaH BogasM Four years of expanded newborn screening in Portugal with tandem mass spectrometry J Inherit Metab Dis. 2010 33 Suppl 3 S133 8 10.1007/s10545-010-9048-z Open DOISearch in Google Scholar

Ferreira CR, Rahman S, Keller M, Zschocke J; ICIMD Advisory Group. An international classification of inherited metabolic disorders (ICIMD). J Inherit Metab Dis. 2021;44(1):164–77. doi: 10.1002/jimd.12348 FerreiraCR RahmanS KellerM ZschockeJ ICIMD Advisory Group An international classification of inherited metabolic disorders (ICIMD) J Inherit Metab Dis. 2021 44 1 164 77 10.1002/jimd.12348 Open DOISearch in Google Scholar

Saudubray JM, Baumgartner MR, Walter J (eds.). Inborn metabolic diseases: diagnosis and treatment. 6th edition. Berlin, Heidelberg: Springer, 2016:658 ISBN 978-3-662-49769-2; 978-3-662-49771-5 (eBook). doi: 10.1007/978-3-662-49771-5 SaudubrayJM BaumgartnerMR WalterJ (eds.). Inborn metabolic diseases: diagnosis and treatment 6th edition Berlin, Heidelberg Springer 2016 658 ISBN 978-3-662-49769-2; 978-3-662-49771-5 (eBook). 10.1007/978-3-662-49771-5 Open DOISearch in Google Scholar

Saudubray JM, Garcia-Cazorla À. Inborn errors of metabolism overview: pathophysiology, manifestations, evaluation, and management. Pediatr Clin North Am. 2018;65(2):179–208. doi: 10.1016/j.pcl.2017.11.002 SaudubrayJM Garcia-CazorlaÀ. Inborn errors of metabolism overview: pathophysiology, manifestations, evaluation, and management Pediatr Clin North Am. 2018 65 2 179 208 10.1016/j.pcl.2017.11.002 Open DOISearch in Google Scholar

Saudubray JM, Mochel F, Lamari F, Garcia-Cazorla A. Proposal for a simplified classification of IMD based on a pathophysiological approach: a practical guide for clinicians. J Inherit Metab Dis. 2019;42(4):706–27. doi: 10.1002/jimd.12086 SaudubrayJM MochelF LamariF Garcia-CazorlaA Proposal for a simplified classification of IMD based on a pathophysiological approach: a practical guide for clinicians J Inherit Metab Dis. 2019 42 4 706 27 10.1002/jimd.12086 Open DOISearch in Google Scholar

Saudubray JM, Sedel F, Walter JH. Clinical approach to treatable inborn metabolic diseases: an introduction. J Inherit Metab Dis. 2006;29(2–3):261–74. doi: 10.1007/s10545-006-0358-0 SaudubrayJM SedelF WalterJH Clinical approach to treatable inborn metabolic diseases: an introduction J Inherit Metab Dis. 2006 29 2–3 261 74 10.1007/s10545-006-0358-0 Open DOISearch in Google Scholar

Ellaway CJ, Wilcken B, Christodoulou J. Clinical approach to inborn errors of metabolism presenting in the newborn period. J Paediatr Child Health. 2002;38(5):511–7. doi: 10.1046/j.1440-1754.2002.00047.x EllawayCJ WilckenB ChristodoulouJ Clinical approach to inborn errors of metabolism presenting in the newborn period J Paediatr Child Health. 2002 38 5 511 7 10.1046/j.1440-1754.2002.00047.x Open DOISearch in Google Scholar

Guerrero RB, Salazar D, Tanpaiboon P. Laboratory diagnostic approaches in metabolic disorders. Ann Transl Med. 2018;6(24):470. doi: 10.21037/atm.2018.11.05 GuerreroRB SalazarD TanpaiboonP Laboratory diagnostic approaches in metabolic disorders Ann Transl Med. 2018 6 24 470 10.21037/atm.2018.11.05 Open DOISearch in Google Scholar

Balakrishnan U. Inborn errors of metabolism-approach to diagnosis and management in neonates. Indian J Pediatr. 2021;88(7):679–89. doi: 10.1007/s12098-021-03759-9 BalakrishnanU Inborn errors of metabolism-approach to diagnosis and management in neonates Indian J Pediatr. 2021 88 7 679 89 10.1007/s12098-021-03759-9 Open DOISearch in Google Scholar

Rennie JM (ed.). Rennie and Roberton's textbook of neonatology. 5th ed. Edinburgh: Churchill Livingstone (Elsevier); 2012; 1375 p. ISBN 978-0-7020-3479-4 RennieJM (ed.) Rennie and Roberton's textbook of neonatology 5th ed. Edinburgh Churchill Livingstone (Elsevier) 2012 1375 p. ISBN 978-0-7020-3479-4 Search in Google Scholar

Executive summary: Neonatal encephalopathy and neurologic outcome, second edition. Report of the American College of Obstetricians and Gynecologists’ Task Force on Neonatal Encephalopathy. Obstet Gynecol. 2014;123(4):896–901. doi: 10.1097/01.AOG.0000445580.65983.d2 Executive summary: Neonatal encephalopathy and neurologic outcome, second edition Report of the American College of Obstetricians and Gynecologists’ Task Force on Neonatal Encephalopathy Obstet Gynecol. 2014 123 4 896 901 10.1097/01.AOG.0000445580.65983.d2 Open DOISearch in Google Scholar

Lutfi R, Abulebda K, Nitu ME, Molleston JP, Bozic MA, Subbarao G. Intensive care management of pediatric acute liver failure. J Pediatr Gastroenterol Nutr. 2017;64(5):660–70. doi: 10.1097/MPG.0000000000001441 LutfiR AbulebdaK NituME MollestonJP BozicMA SubbaraoG Intensive care management of pediatric acute liver failure J Pediatr Gastroenterol Nutr. 2017 64 5 660 70 10.1097/MPG.0000000000001441 Open DOISearch in Google Scholar

Ibarra-Gonález I, Fernández-Lainez C, Reyes-González D, Belmont-Martínez L, Guillén-López S, Monroy-Santoyo S, et al. Inborn errors of intermediary metabolism in critically ill Mexican newborns. J Inborn Errors Metab Screen. 2014;2:e140001. doi: 10.1177/2326409814529649 Ibarra-GonálezI Fernández-LainezC Reyes-GonzálezD Belmont-MartínezL Guillén-LópezS Monroy-SantoyoS Inborn errors of intermediary metabolism in critically ill Mexican newborns J Inborn Errors Metab Screen. 2014 2 e140001 10.1177/2326409814529649 Open DOISearch in Google Scholar

AlObaidy H. Patterns of inborn errors of metabolism: a 12 year single-center hospital-based study in Libya. Qatar Med J. 2013;2013(2):57–65. doi: 10.5339/qmj.2013.18 AlObaidyH Patterns of inborn errors of metabolism: a 12 year single-center hospital-based study in Libya Qatar Med J. 2013 2013 2 57 65 10.5339/qmj.2013.18 Open DOISearch in Google Scholar

Couce ML, Baña A, Bóveda MD, Pérez-Muñuzuri A, Fernández-Lorenzo JR, Fraga JM. Inborn errors of metabolism in a neonatology unit: impact and long-term results. Pediatr Int. 2011;53(1): 13–7. doi: 10.1111/j.1442-200X.2010.03177.x CouceML BañaA BóvedaMD Pérez-MuñuzuriA Fernández-LorenzoJR FragaJM Inborn errors of metabolism in a neonatology unit: impact and long-term results Pediatr Int. 2011 53 1 13 7 10.1111/j.1442-200X.2010.03177.x Open DOISearch in Google Scholar

Burton BK. Inborn errors of metabolism in infancy: a guide to diagnosis. Pediatrics. 1998;102(6):E69. doi: 10.1542/peds.102.6.e69 BurtonBK Inborn errors of metabolism in infancy: a guide to diagnosis Pediatrics. 1998 102 6 E69 10.1542/peds.102.6.e69 Open DOISearch in Google Scholar

Leonard JV, Morris AA. Diagnosis and early management of in-born errors of metabolism presenting around the time of birth. Acta Paediatr. 2006;95(1):6–14. doi: 10.1080/08035250500349413 LeonardJV MorrisAA Diagnosis and early management of in-born errors of metabolism presenting around the time of birth Acta Paediatr. 2006 95 1 6 14 10.1080/08035250500349413 Open DOISearch in Google Scholar

Falsaperla R, Sciuto L, La Spina L, Sciuto S, Praticò AD, Ruggieri M. Neonatal seizures as onset of inborn errors of metabolism (IEMs): from diagnosis to treatment. A systematic review. Metab Brain Dis. 2021;36(8):2195–203. doi: 10.1007/s11011-021-00798-1 FalsaperlaR SciutoL La SpinaL SciutoS PraticòAD RuggieriM Neonatal seizures as onset of inborn errors of metabolism (IEMs): from diagnosis to treatment. A systematic review Metab Brain Dis. 2021 36 8 2195 203 10.1007/s11011-021-00798-1 Open DOISearch in Google Scholar

MacNeill EC, Walker CP. Inborn errors of metabolism in the emergency department (undiagnosed and management of the known). Emerg Med Clin North Am. 2018;36(2):369–85. doi: 10.1016/j.emc.2017.12.014 MacNeillEC WalkerCP Inborn errors of metabolism in the emergency department (undiagnosed and management of the known) Emerg Med Clin North Am. 2018 36 2 369 85 10.1016/j.emc.2017.12.014 Open DOISearch in Google Scholar

PORTUGAL. Ministry of Health. National Institute of Health Doctor Ricardo Jorge, IP. National Neonatal Screening Program: 2020 report. Program Executive Committee; Laura Vilarinho, Paula Garcia, Paulo Pinho e Costa. Lisbon : Doctor Ricardo Jorge National Institute of Health, IP, 2021; 116 p. ISBN 978-989-8794-74-1. PORTUGAL Ministry of Health. National Institute of Health Doctor Ricardo Jorge, IP. National Neonatal Screening Program: 2020 report. Program Executive Committee; Laura Vilarinho, Paula Garcia, Paulo Pinho e Costa Lisbon Doctor Ricardo Jorge National Institute of Health, IP 2021 116 p. ISBN 978-989-8794-74-1. Search in Google Scholar

Diogo, L. Introduction to hereditary diseases of metabolism. In: Oliveira G, Saraiva, J. Lessons of paediatrics. Coimbra: Press of the University of Coimbra; 2017. Vol 2. P. 299–310. DOI: https://doi.org/10.14195/978-989-26-1300-0_42 DiogoL. Introduction to hereditary diseases of metabolism In: OliveiraG SaraivaJ. Lessons of paediatrics Coimbra Press of the University of Coimbra 2017 2 299 310 DOI: https://doi.org/10.14195/978-989-26-1300-0_42 Search in Google Scholar

Śmigiel R, Biela M, Szmyd K, Błoch M, Szmida E, Skiba P, et al. Rapid whole-exome sequencing as a diagnostic tool in a neonatal/pediatric intensive care unit. J Clin Med. 2020;9(7):2220. doi: 10.3390/jcm9072220 ŚmigielR BielaM SzmydK BłochM SzmidaE SkibaP Rapid whole-exome sequencing as a diagnostic tool in a neonatal/pediatric intensive care unit J Clin Med. 2020 9 7 2220 10.3390/jcm9072220 Open DOISearch in Google Scholar

Balakrishnan U, Chandrasekaran A, Amboiram P, Ninan B, Ignatious S. Outcome of inherited metabolic disorders presenting in the neonatal period. Indian J Pediatr. 2021;88(5):455–62. doi: 10.1007/s12098-020-03522-6 BalakrishnanU ChandrasekaranA AmboiramP NinanB IgnatiousS Outcome of inherited metabolic disorders presenting in the neonatal period Indian J Pediatr. 2021 88 5 455 62 10.1007/s12098-020-03522-6 Open DOISearch in Google Scholar

Garganta CL, Smith WE. Metabolic evaluation of the sick neonate. Semin Perinatol. 2005;29(3):164–72. doi: 10.1053/j.semperi.2005.04.009 GargantaCL SmithWE Metabolic evaluation of the sick neonate Semin Perinatol. 2005 29 3 164 72 10.1053/j.semperi.2005.04.009 Open DOISearch in Google Scholar

Lai YC, Huang HP, Tsai IJ, Tsau YK. High-volume continuous venovenous hemofiltration as an effective therapy for acute management of inborn errors of metabolism in young children. Blood Purif. 2007;25(4):303–8. doi: 10.1159/000106102 LaiYC HuangHP TsaiIJ TsauYK High-volume continuous venovenous hemofiltration as an effective therapy for acute management of inborn errors of metabolism in young children Blood Purif. 2007 25 4 303 8 10.1159/000106102 Open DOISearch in Google Scholar

eISSN:
2719-535X
Sprache:
Englisch
Zeitrahmen der Veröffentlichung:
Volume Open
Fachgebiete der Zeitschrift:
Medizin, Klinische Medizin, Kinder- und Jugendmedizin, Kinderhämatolgie und -Onkologie, Öffentliches Gesundheitswesen