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Detection of trimethyllysine hydroxylase epsilon gene mutation and assessment of plasma l- carnitine level in autistic children / Mai Mohamed Khalil ; Supervised Fatma Elmougy , Mona Anwar Mohamed , Enas Hamdy Mahmoud

By: Contributor(s): Material type: TextTextLanguage: English Publication details: Cairo : Mai Mohamed Khalil , 2016Description: 121 P. : charts , facsimiles ; 25cmOther title:
  • الكشف عن الطفرة الجينية للتراى ميثيل لايسين هيدروكسيلاز ايبسلون وتقدير مستوى الكارنيتين فى بلازما دم الأطفال المصابيين بالتوحيد [Added title page title]
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Dissertation note: Thesis (Ph.D.) - Cairo University - Faculty of Medicine - Department of Clinical and Chemical Pathology Summary: Autism spectrum disorders are neurodevelopmental conditions affecting social and communication skills with stereotyped movements. Prevalence of autism has been on an increase in the last two decades according to literature. Research associated some forms of autism spectrum disorders with metabolic disturbances, specifically mitochondrial dysfunction. On studying cases with autism three cases out of eighty displayed a deletion in exon 2 of TMLHE gene, the gene transcribing the first enzyme in carnitine synthesis. With acylcarnitine analysis, 52.5% of the cases displayed elevated total acylcarnitine/ free carnitine ratio, with 20 % of the cases having decreased free carnitine level. Amino acid analysis displayed an elevation of tyrosine, alanine and proline in autistic cases. All of these findings meet criteria of mitochondrial dysfunction in autistic cases
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Item type Current library Home library Call number Copy number Status Date due Barcode
Thesis Thesis قاعة الرسائل الجامعية - الدور الاول المكتبة المركزبة الجديدة - جامعة القاهرة Cai01.11.07.Ph.D.2016.Ma.D (Browse shelf(Opens below)) Not for loan 01010110069823000
CD - Rom CD - Rom مخـــزن الرســائل الجـــامعية - البدروم المكتبة المركزبة الجديدة - جامعة القاهرة Cai01.11.07.Ph.D.2016.Ma.D (Browse shelf(Opens below)) 69823.CD Not for loan 01020110069823000

Thesis (Ph.D.) - Cairo University - Faculty of Medicine - Department of Clinical and Chemical Pathology

Autism spectrum disorders are neurodevelopmental conditions affecting social and communication skills with stereotyped movements. Prevalence of autism has been on an increase in the last two decades according to literature. Research associated some forms of autism spectrum disorders with metabolic disturbances, specifically mitochondrial dysfunction. On studying cases with autism three cases out of eighty displayed a deletion in exon 2 of TMLHE gene, the gene transcribing the first enzyme in carnitine synthesis. With acylcarnitine analysis, 52.5% of the cases displayed elevated total acylcarnitine/ free carnitine ratio, with 20 % of the cases having decreased free carnitine level. Amino acid analysis displayed an elevation of tyrosine, alanine and proline in autistic cases. All of these findings meet criteria of mitochondrial dysfunction in autistic cases

Issued also as CD

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