Elevated plasma dihydroorotate in Miller syndrome: Biochemical, diagnostic and clinical implications, and treatment with uridine
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- 作者：John A. Duleya ; jduley@pharmacy.uq.edu.au" class="auth_mail" title="E-mail the corresponding author ; Michael G. Henmanb ; michael.henman@mater.org.au" class="auth_mail" title="E-mail the corresponding author ; Kevin H. Carpenterc ; kevin.carpenter@health.nsw.gov.au" class="auth_mail" title="E-mail the corresponding author ; Michael J. Bamshadd ; mbamshad@u.washington.edu" class="auth_mail" title="E-mail the corresponding author ; George A. Marshalle ; george.marshall@mater.org.au" class="auth_mail" title="E-mail the corresponding author ; Chee Y. Ooif ; i ; keith.ooi@unsw.edu.au" class="auth_mail" title="E-mail the corresponding author ; Bridget Wilckeng ; bridget.wilcken@health.nsw.gov.au" class="auth_mail" title="E-mail the corresponding author ; Jason R. Pinnerh ; jason.pinner@sswahs.nsw.gov.au" class="auth_mail" title="E-mail the corresponding author
- 关键词：AST ; aspartate transaminase ; ALT ; alanine transaminase ; CYP ; cytochrome-P450 ; Cyt C ; cytochrome C ; DHO ; dihydroorotic acid ; DHODH ; DHO dehydrogenase ; EDTA ; ethylenediamine-tetraacetic acid ; FMN ; flavin mononucleotide ; GGT ; gamma-glutamyl transferase ; LC-MS/MS ; high performance liquid chromatography-tandem mass spectrometry ; OA ; orotic acid ; POADS ; post-axial acrofacial dysostosis ; UMP ; uridine monophosphate ; UQH2 ; reduced ubiquinone
- 刊名：Molecular Genetics and Metabolism
- 出版年：2016
- 出版时间：September-October 2016
- 年：2016
- 卷：119
- 期：1-2
- 页码：83-90
- 全文大小：893 K
文摘
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First report of raised dihydroorotate in plasma and urine for Miller syndrome
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Biochemical confirmation of functional deficiency of the enzyme
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Diagnosis is simplified using plasma or dried blood/plasma spots.
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Urine orotate proposed to arise from alternative metabolism of dihydroorotate
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Oral uridine did not resolve behavioural problems but lowered plasma dihydroorotate.