Frequency of inborn errors of metabolism screening for children with unexplained acute encephalopathy at an emergency department

Mamdouh Abdel Maksoud,1 Solaf Mohamed ELsayed,2 Rania H Shatla,1 Abdulbasit Abdulhalim Imam,3 Riad M Elsayed,4 Amira AA Mosabah,5 Ashraf M Sherif5 1Pediatric Department, Ain Shams University, Cairo, Egypt; 2Genetics Department, Ain Shams University, Cairo, Egypt; 3Department of Pediatrics, Al-Azhar...

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Autores principales:	Abdel Maksoud M, ELsayed SM, Shatla RH, Imam AA, Elsayed RM, Mosabah AA, Sherif AM
Formato:	article
Lenguaje:	EN
Publicado:	Dove Medical Press 2018
Materias:	Inborn Errors of Metabolism children acute encephalopathy Emergency Division Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429
Acceso en línea:	https://doaj.org/article/5a5b0571935e4c2596f538c3ec2e5693
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spelling	oai:doaj.org-article:5a5b0571935e4c2596f538c3ec2e56932021-12-02T03:48:08ZFrequency of inborn errors of metabolism screening for children with unexplained acute encephalopathy at an emergency department1178-2021https://doaj.org/article/5a5b0571935e4c2596f538c3ec2e56932018-06-01T00:00:00Zhttps://www.dovepress.com/frequency-of-inborn-errors-of-metabolism-screening-for-children-with-u-peer-reviewed-article-NDThttps://doaj.org/toc/1178-2021Mamdouh Abdel Maksoud,1 Solaf Mohamed ELsayed,2 Rania H Shatla,1 Abdulbasit Abdulhalim Imam,3 Riad M Elsayed,4 Amira AA Mosabah,5 Ashraf M Sherif5 1Pediatric Department, Ain Shams University, Cairo, Egypt; 2Genetics Department, Ain Shams University, Cairo, Egypt; 3Department of Pediatrics, Al-Azhar Faculty of Medicine-Girls, Cairo, Egypt; 4Pediatric Neurology Unit, Pediatric Department, Mansoura University, Mansoura, Dakahlia, Egypt; 5Department of Pediatrics, Cairo University, Cairo, Egypt Objective: Our study aimed to estimate the frequency of inborn errors of metabolism (IEMs) in patients presenting with acute encephalopathy-like picture at an emergency department (ED). Subjects and methods: Our study was a prospective observational study conducted on 30 patients admitted to the pediatric ED with unexplained acute encephalopathy. The study included 30 children with an age ranging from 1 month to 5 years. All patients were subjected to full history taking, thorough clinical examination, and laboratory investigations including serum ammonia, serum lactate, arterial blood gases, tandem mass spectroscopy, organic acid of urine, cerebrospinal fluid examination to exclude central nervous system infection plus the routine laboratory tests (kidney functions, liver functions, random blood glucose, complete blood picture), and brain imaging computed tomography and/or magnetic resonance imaging brain. Results: Thirty children presented with acute encephalopathy at the ED. All were screened for suspected IEMs. Ten (33.3%) of them was positive in the initial screening test. There were four (13.3%) patients with possible mitochondrial diseases, four (13.3%) patients with possible organic acidemia, one (3.3%) patient with possible urea cycle defect, and one (3.3%) patient with possible nonketotic hyperglycinemia. Conclusion: Any case of unexplained acute encephalopathy presenting to the ED should be investigated for suspected IEM, especially in high-risk families, as early interventions will lead to improved outcome. Keywords: inborn errors of metabolism, children, acute encephalopathy, emergency department, comatose child, metabolic screenAbdel Maksoud MELsayed SMShatla RHImam AAElsayed RMMosabah AASherif AMDove Medical PressarticleInborn Errors of Metabolismchildrenacute encephalopathyEmergency DivisionNeurosciences. Biological psychiatry. NeuropsychiatryRC321-571Neurology. Diseases of the nervous systemRC346-429ENNeuropsychiatric Disease and Treatment, Vol Volume 14, Pp 1715-1720 (2018)
institution	DOAJ
collection	DOAJ
language	EN
topic	Inborn Errors of Metabolism children acute encephalopathy Emergency Division Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429
spellingShingle	Inborn Errors of Metabolism children acute encephalopathy Emergency Division Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429 Abdel Maksoud M ELsayed SM Shatla RH Imam AA Elsayed RM Mosabah AA Sherif AM Frequency of inborn errors of metabolism screening for children with unexplained acute encephalopathy at an emergency department
description	Mamdouh Abdel Maksoud,1 Solaf Mohamed ELsayed,2 Rania H Shatla,1 Abdulbasit Abdulhalim Imam,3 Riad M Elsayed,4 Amira AA Mosabah,5 Ashraf M Sherif5 1Pediatric Department, Ain Shams University, Cairo, Egypt; 2Genetics Department, Ain Shams University, Cairo, Egypt; 3Department of Pediatrics, Al-Azhar Faculty of Medicine-Girls, Cairo, Egypt; 4Pediatric Neurology Unit, Pediatric Department, Mansoura University, Mansoura, Dakahlia, Egypt; 5Department of Pediatrics, Cairo University, Cairo, Egypt Objective: Our study aimed to estimate the frequency of inborn errors of metabolism (IEMs) in patients presenting with acute encephalopathy-like picture at an emergency department (ED). Subjects and methods: Our study was a prospective observational study conducted on 30 patients admitted to the pediatric ED with unexplained acute encephalopathy. The study included 30 children with an age ranging from 1 month to 5 years. All patients were subjected to full history taking, thorough clinical examination, and laboratory investigations including serum ammonia, serum lactate, arterial blood gases, tandem mass spectroscopy, organic acid of urine, cerebrospinal fluid examination to exclude central nervous system infection plus the routine laboratory tests (kidney functions, liver functions, random blood glucose, complete blood picture), and brain imaging computed tomography and/or magnetic resonance imaging brain. Results: Thirty children presented with acute encephalopathy at the ED. All were screened for suspected IEMs. Ten (33.3%) of them was positive in the initial screening test. There were four (13.3%) patients with possible mitochondrial diseases, four (13.3%) patients with possible organic acidemia, one (3.3%) patient with possible urea cycle defect, and one (3.3%) patient with possible nonketotic hyperglycinemia. Conclusion: Any case of unexplained acute encephalopathy presenting to the ED should be investigated for suspected IEM, especially in high-risk families, as early interventions will lead to improved outcome. Keywords: inborn errors of metabolism, children, acute encephalopathy, emergency department, comatose child, metabolic screen
format	article
author	Abdel Maksoud M ELsayed SM Shatla RH Imam AA Elsayed RM Mosabah AA Sherif AM
author_facet	Abdel Maksoud M ELsayed SM Shatla RH Imam AA Elsayed RM Mosabah AA Sherif AM
author_sort	Abdel Maksoud M
title	Frequency of inborn errors of metabolism screening for children with unexplained acute encephalopathy at an emergency department
title_short	Frequency of inborn errors of metabolism screening for children with unexplained acute encephalopathy at an emergency department
title_full	Frequency of inborn errors of metabolism screening for children with unexplained acute encephalopathy at an emergency department
title_fullStr	Frequency of inborn errors of metabolism screening for children with unexplained acute encephalopathy at an emergency department
title_full_unstemmed	Frequency of inborn errors of metabolism screening for children with unexplained acute encephalopathy at an emergency department
title_sort	frequency of inborn errors of metabolism screening for children with unexplained acute encephalopathy at an emergency department
publisher	Dove Medical Press
publishDate	2018
url	https://doaj.org/article/5a5b0571935e4c2596f538c3ec2e5693
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_version_	1718401631254478848

Frequency of inborn errors of metabolism screening for children with unexplained acute encephalopathy at an emergency department

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