In vivo monitoring of urea cycle activity with 13C-acetate as a tracer of ureagenesis
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- 作者：Thomas Opladena ; Thomas.Opladen@med.uni-heidelberg.de" class="auth_mail" title="E-mail the corresponding author ; Martin Lindnera ; b ; Martin.Lindner@kgu.de" class="auth_mail" title="E-mail the corresponding author ; Anibh M. Dasc ; Das.Anibh@mh-hannover.de" class="auth_mail" title="E-mail the corresponding author ; Thorsten Marquardtd ; Thorsten.Marquardt@ukmuenster.de" class="auth_mail" title="E-mail the corresponding author ; Aneal Khane ; khaa@ucalgary.ca" class="auth_mail" title="E-mail the corresponding author ; Sukru H. Emref ; sukru.emre@yale.edu" class="auth_mail" title="E-mail the corresponding author ; Barbara K. Burtong ; BBurton@luriechildrens.org" class="auth_mail" title="E-mail the corresponding author ; Bruce A. Barshoph ; bbarshop@ucsd.edu" class="auth_mail" title="E-mail the corresponding author ; Thea Bö ; hmi ; Thea.boehm@gmx.net" class="auth_mail" title="E-mail the corresponding author ; Jochen Meyburga ; Jochen.Meyburg@med.uni-heidelberg.de" class="auth_mail" title="E-mail the corresponding author ; Kathrin Zangerla ; kathrin.zangerl@gmail.com" class="auth_mail" title="E-mail the corresponding author ; Sebene Mayorandanc ; Sebene.Mayorandan@ukmuenster.de" class="auth_mail" title="E-mail the corresponding author ; Peter Burgarda ; Peter.Burgard@med.uni-heidelberg.de" class="auth_mail" title="E-mail the corresponding author ; Ulrich H.N. Dü ; rri ; Ulrich.Duerr@cytonet.de" class="auth_mail" title="E-mail the corresponding author ; Bernd Rosenkranzj ; rosenkranz@sun.ac.za" class="auth_mail" title="E-mail the corresponding author ; Jö ; rg Renneckei ; Joerg.Rennecke@cytonet.de" class="auth_mail" title="E-mail the corresponding author ; Jens Derbinskii ; Jens.Derbinski@cytonet.de" class="auth_mail" title="E-mail the corresponding author ; Marc Yudkoffk ; 1 ; yudkoff@email.chop.edu" class="auth_mail" title="E-mail the corresponding author ; Georg F. Hoffmanna ; 1 ; Georg.Hoffmann@med.uni-heidelberg.de" class="auth_mail" title="E-mail the corresponding author
- 关键词：UCD ; urea cycle defect ; OTC ; ornithine carbamoyltransferase ; ASS ; argininosuccinate synthetase 1 ; CPS1 ; carbamoyl phosphate synthetase 1 ; ASL ; argininosuccinate lyase
- 刊名：Molecular Genetics and Metabolism
- 出版年：2016
- 出版时间：January 2016
- 年：2016
- 卷：117
- 期：1
- 页码：19-26
- 全文大小：548 K
文摘
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The study analyses 13C-ureagenesis in healthy subjects, UCD patients and carriers.
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The population is the largest cohort to be studied to date.
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The assay is a sensitive in-vivo tool to measure ureagenesis capacity.
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It differentiates asymptomatic female carriers from symptomatic female OTCD patients.
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It can contribute to the assessment of disease severity of neonatal OTCD patients.