Abstract:
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.
journal_name
Neuropsychiatr Dis Treatjournal_title
Neuropsychiatric disease and treatmentauthors
Abdel Maksoud M,ELsayed SM,Shatla RH,Imam AA,Elsayed RM,Mosabah AA,Sherif AMdoi
10.2147/NDT.S165833subject
Has Abstractpub_date
2018-06-29 00:00:00pages
1715-1720eissn
1176-6328issn
1178-2021pii
ndt-14-1715journal_volume
14pub_type
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journal_title:Neuropsychiatric disease and treatment
pub_type: 杂志文章
doi:10.2147/nedt.1.1.9.52299
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journal_title:Neuropsychiatric disease and treatment
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doi:10.2147/NDT.S44241
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journal_title:Neuropsychiatric disease and treatment
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journal_title:Neuropsychiatric disease and treatment
pub_type: 杂志文章
doi:10.2147/NDT.S192752
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journal_title:Neuropsychiatric disease and treatment
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journal_title:Neuropsychiatric disease and treatment
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journal_title:Neuropsychiatric disease and treatment
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doi:10.2147/NDT.S138565
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doi:10.2147/NDT.S117469
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journal_title:Neuropsychiatric disease and treatment
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doi:10.2147/NDT.S73730
更新日期:2015-01-23 00:00:00
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journal_title:Neuropsychiatric disease and treatment
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journal_title:Neuropsychiatric disease and treatment
pub_type:
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更新日期:2014-04-02 00:00:00
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pub_type: 杂志文章,评审
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journal_title:Neuropsychiatric disease and treatment
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更新日期:2012-01-01 00:00:00
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journal_title:Neuropsychiatric disease and treatment
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journal_title:Neuropsychiatric disease and treatment
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journal_title:Neuropsychiatric disease and treatment
pub_type: 杂志文章,评审
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更新日期:2016-02-29 00:00:00
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journal_title:Neuropsychiatric disease and treatment
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journal_title:Neuropsychiatric disease and treatment
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pub_type: 杂志文章
doi:10.2147/NDT.S53853
更新日期:2013-01-01 00:00:00