View in EDS

High Levels of Blood Glutamic Acid and Ornithine in Children with Intellectual Disability

Saved in:
Bibliographic Details
Title: High Levels of Blood Glutamic Acid and Ornithine in Children with Intellectual Disability
Language: English
Authors: Wasim, Muhammad (ORCID 0000-0003-0969-6609), Khan, Haq Nawaz, Ayesha, Hina, Tawab, Abdul, Habib, Fazal e, Asi, Muhammad Rafique, Iqbal, Mazhar (ORCID 0000-0002-8675-1125), Awan, Fazli Rabbi (ORCID 0000-0002-8210-705X)
Source: International Journal of Developmental Disabilities. 2022 68(5):609-614.
Availability: Taylor & Francis. Available from: Taylor & Francis, Ltd. 530 Walnut Street Suite 850, Philadelphia, PA 19106. Tel: 800-354-1420; Tel: 215-625-8900; Fax: 215-207-0050; Web site: http://www.tandf.co.uk/journals
Peer Reviewed: Y
Page Count: 6
Publication Date: 2022
Document Type: Journal Articles
Reports - Research
Descriptors: Metabolism, Intellectual Disability, Screening Tests, Children, Biochemistry, At Risk Persons, Foreign Countries, Diseases, Genetic Disorders
Geographic Terms: Pakistan
DOI: 10.1080/20473869.2020.1858520
ISSN: 2047-3869
2047-3877
Abstract: Objectives: Aminoacidopathies are inborn errors of metabolism (IEMs) that cause intellectual disability in children. Luckily, aminoacidopathies are potentially treatable, if diagnosed earlier in life. The focus of this study was the screening of aminoacidopathies in a cohort of patients suspected for IEMs. Methods: Blood samples from healthy (IQ > 90; n = 391) and intellectually disabled (IQ < 70; n = 409) children (suspected for IEMs) were collected from different areas of Northern Punjab, Pakistan. An analytical HPLC assay was used for the screening of plasma amino acids. Results: All the samples (n = 800) were analyzed on HPLC and forty-three out of 409 patient samples showed abnormal amino acid profiles mainly in the levels of glutamic acid, ornithine and methionine. Plasma concentration (Mean ± SD ng/mL) were significantly high in 40 patients for glutamic acid (patients: 165 ± 38 vs. controls: 57 ± 8, p < 0.00001) and ornithine (patients: 3177 ± 937 vs. controls: 1361 ± 91, p < 0.0001). Moreover, 3 patients showed abnormally high (53.3 ± 8.6 ng/mL) plasma levels of methionine. Conclusion: In conclusion, biochemical analysis of samples from such patients at the metabolites level could reveal the underlying diseases which could be confirmed through advanced biochemical and genetic analyses. Thus, treatment to some of such patients could be offered. Thus burden of intellectual disability caused by such rare metabolic diseases could be reduced from the target populations.
Abstractor: As Provided
Entry Date: 2023
Accession Number: EJ1366283
Database: ERIC
FullText Text:
  Availability: 0
Header DbId: eric
DbLabel: ERIC
An: EJ1366283
AccessLevel: 3
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: High Levels of Blood Glutamic Acid and Ornithine in Children with Intellectual Disability
– Name: Language
  Label: Language
  Group: Lang
  Data: English
– Name: Author
  Label: Authors
  Group: Au
  Data: &lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Wasim%2C+Muhammad%22&quot;&gt;Wasim, Muhammad&lt;/searchLink&gt; (ORCID &lt;externalLink term=&quot;http://orcid.org/0000-0003-0969-6609&quot;&gt;0000-0003-0969-6609&lt;/externalLink&gt;)&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Khan%2C+Haq+Nawaz%22&quot;&gt;Khan, Haq Nawaz&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Ayesha%2C+Hina%22&quot;&gt;Ayesha, Hina&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Tawab%2C+Abdul%22&quot;&gt;Tawab, Abdul&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Habib%2C+Fazal+e%22&quot;&gt;Habib, Fazal e&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Asi%2C+Muhammad+Rafique%22&quot;&gt;Asi, Muhammad Rafique&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Iqbal%2C+Mazhar%22&quot;&gt;Iqbal, Mazhar&lt;/searchLink&gt; (ORCID &lt;externalLink term=&quot;http://orcid.org/0000-0002-8675-1125&quot;&gt;0000-0002-8675-1125&lt;/externalLink&gt;)&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Awan%2C+Fazli+Rabbi%22&quot;&gt;Awan, Fazli Rabbi&lt;/searchLink&gt; (ORCID &lt;externalLink term=&quot;http://orcid.org/0000-0002-8210-705X&quot;&gt;0000-0002-8210-705X&lt;/externalLink&gt;)
– Name: TitleSource
  Label: Source
  Group: Src
  Data: &lt;searchLink fieldCode=&quot;SO&quot; term=&quot;%22International+Journal+of+Developmental+Disabilities%22&quot;&gt;&lt;i&gt;International Journal of Developmental Disabilities&lt;/i&gt;&lt;/searchLink&gt;. 2022 68(5):609-614.
– Name: Avail
  Label: Availability
  Group: Avail
  Data: Taylor &amp; Francis. Available from: Taylor &amp; Francis, Ltd. 530 Walnut Street Suite 850, Philadelphia, PA 19106. Tel: 800-354-1420; Tel: 215-625-8900; Fax: 215-207-0050; Web site: http://www.tandf.co.uk/journals
– Name: PeerReviewed
  Label: Peer Reviewed
  Group: SrcInfo
  Data: Y
– Name: Pages
  Label: Page Count
  Group: Src
  Data: 6
– Name: DatePubCY
  Label: Publication Date
  Group: Date
  Data: 2022
– Name: TypeDocument
  Label: Document Type
  Group: TypDoc
  Data: Journal Articles&lt;br /&gt;Reports - Research
– Name: Subject
  Label: Descriptors
  Group: Su
  Data: &lt;searchLink fieldCode=&quot;DE&quot; term=&quot;%22Metabolism%22&quot;&gt;Metabolism&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;DE&quot; term=&quot;%22Intellectual+Disability%22&quot;&gt;Intellectual Disability&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;DE&quot; term=&quot;%22Screening+Tests%22&quot;&gt;Screening Tests&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;DE&quot; term=&quot;%22Children%22&quot;&gt;Children&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;DE&quot; term=&quot;%22Biochemistry%22&quot;&gt;Biochemistry&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;DE&quot; term=&quot;%22At+Risk+Persons%22&quot;&gt;At Risk Persons&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;DE&quot; term=&quot;%22Foreign+Countries%22&quot;&gt;Foreign Countries&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;DE&quot; term=&quot;%22Diseases%22&quot;&gt;Diseases&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;DE&quot; term=&quot;%22Genetic+Disorders%22&quot;&gt;Genetic Disorders&lt;/searchLink&gt;
– Name: Subject
  Label: Geographic Terms
  Group: Su
  Data: &lt;searchLink fieldCode=&quot;DE&quot; term=&quot;%22Pakistan%22&quot;&gt;Pakistan&lt;/searchLink&gt;
– Name: DOI
  Label: DOI
  Group: ID
  Data: 10.1080/20473869.2020.1858520
– Name: ISSN
  Label: ISSN
  Group: ISSN
  Data: 2047-3869&lt;br /&gt;2047-3877
– Name: Abstract
  Label: Abstract
  Group: Ab
  Data: Objectives: Aminoacidopathies are inborn errors of metabolism (IEMs) that cause intellectual disability in children. Luckily, aminoacidopathies are potentially treatable, if diagnosed earlier in life. The focus of this study was the screening of aminoacidopathies in a cohort of patients suspected for IEMs. Methods: Blood samples from healthy (IQ &gt; 90; n = 391) and intellectually disabled (IQ &lt; 70; n = 409) children (suspected for IEMs) were collected from different areas of Northern Punjab, Pakistan. An analytical HPLC assay was used for the screening of plasma amino acids. Results: All the samples (n = 800) were analyzed on HPLC and forty-three out of 409 patient samples showed abnormal amino acid profiles mainly in the levels of glutamic acid, ornithine and methionine. Plasma concentration (Mean &#177; SD ng/mL) were significantly high in 40 patients for glutamic acid (patients: 165 &#177; 38 vs. controls: 57 &#177; 8, p &lt; 0.00001) and ornithine (patients: 3177 &#177; 937 vs. controls: 1361 &#177; 91, p &lt; 0.0001). Moreover, 3 patients showed abnormally high (53.3 &#177; 8.6 ng/mL) plasma levels of methionine. Conclusion: In conclusion, biochemical analysis of samples from such patients at the metabolites level could reveal the underlying diseases which could be confirmed through advanced biochemical and genetic analyses. Thus, treatment to some of such patients could be offered. Thus burden of intellectual disability caused by such rare metabolic diseases could be reduced from the target populations.
– Name: AbstractInfo
  Label: Abstractor
  Group: Ab
  Data: As Provided
– Name: DateEntry
  Label: Entry Date
  Group: Date
  Data: 2023
– Name: AN
  Label: Accession Number
  Group: ID
  Data: EJ1366283
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=eric&AN=EJ1366283
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1080/20473869.2020.1858520
    Languages:
      – Text: English
    PhysicalDescription:
      Pagination:
        PageCount: 6
        StartPage: 609
    Subjects:
      – SubjectFull: Metabolism
        Type: general
      – SubjectFull: Intellectual Disability
        Type: general
      – SubjectFull: Screening Tests
        Type: general
      – SubjectFull: Children
        Type: general
      – SubjectFull: Biochemistry
        Type: general
      – SubjectFull: At Risk Persons
        Type: general
      – SubjectFull: Foreign Countries
        Type: general
      – SubjectFull: Diseases
        Type: general
      – SubjectFull: Genetic Disorders
        Type: general
      – SubjectFull: Pakistan
        Type: general
    Titles:
      – TitleFull: High Levels of Blood Glutamic Acid and Ornithine in Children with Intellectual Disability
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Wasim, Muhammad
      – PersonEntity:
          Name:
            NameFull: Khan, Haq Nawaz
      – PersonEntity:
          Name:
            NameFull: Ayesha, Hina
      – PersonEntity:
          Name:
            NameFull: Tawab, Abdul
      – PersonEntity:
          Name:
            NameFull: Habib, Fazal e
      – PersonEntity:
          Name:
            NameFull: Asi, Muhammad Rafique
      – PersonEntity:
          Name:
            NameFull: Iqbal, Mazhar
      – PersonEntity:
          Name:
            NameFull: Awan, Fazli Rabbi
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 01
              Type: published
              Y: 2022
          Identifiers:
            – Type: issn-print
              Value: 2047-3869
            – Type: issn-electronic
              Value: 2047-3877
          Numbering:
            – Type: volume
              Value: 68
            – Type: issue
              Value: 5
          Titles:
            – TitleFull: International Journal of Developmental Disabilities
              Type: main
ResultId 1