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Frequency of inborn errors of metabolism screening for children with unexplained acute encephalopathy at an emergency department
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 ped...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Dove Medical Press
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6029674/ https://www.ncbi.nlm.nih.gov/pubmed/29988750 http://dx.doi.org/10.2147/NDT.S165833 |
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author | Abdel Maksoud, Mamdouh ELsayed, Solaf Mohamed Shatla, Rania H Imam, Abdulbasit Abdulhalim Elsayed, Riad M Mosabah, Amira AA Sherif, Ashraf M |
author_facet | Abdel Maksoud, Mamdouh ELsayed, Solaf Mohamed Shatla, Rania H Imam, Abdulbasit Abdulhalim Elsayed, Riad M Mosabah, Amira AA Sherif, Ashraf M |
author_sort | Abdel Maksoud, Mamdouh |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-6029674 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Dove Medical Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-60296742018-07-09 Frequency of inborn errors of metabolism screening for children with unexplained acute encephalopathy at an emergency department Abdel Maksoud, Mamdouh ELsayed, Solaf Mohamed Shatla, Rania H Imam, Abdulbasit Abdulhalim Elsayed, Riad M Mosabah, Amira AA Sherif, Ashraf M Neuropsychiatr Dis Treat Original Research 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. Dove Medical Press 2018-06-29 /pmc/articles/PMC6029674/ /pubmed/29988750 http://dx.doi.org/10.2147/NDT.S165833 Text en © 2018 Abdel Maksoud et al. This work is published and licensed by Dove Medical Press Limited The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution – Non Commercial (unported, v3.0) License (http://creativecommons.org/licenses/by-nc/3.0/). By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. |
spellingShingle | Original Research Abdel Maksoud, Mamdouh ELsayed, Solaf Mohamed Shatla, Rania H Imam, Abdulbasit Abdulhalim Elsayed, Riad M Mosabah, Amira AA Sherif, Ashraf M Frequency of inborn errors of metabolism screening for children with unexplained acute encephalopathy at an emergency department |
title | 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_short | 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 |
topic | Original Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6029674/ https://www.ncbi.nlm.nih.gov/pubmed/29988750 http://dx.doi.org/10.2147/NDT.S165833 |
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