Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5513991 | Molecular Genetics and Metabolism | 2016 | 8 Pages |
Abstract
This case with grossly raised plasma DHO represents the first biochemical confirmation of functional DHODH deficiency. DHO was also easily detectable in dried plasma and blood spots. We concluded that DHO oxidation to OA must occur enzymatically during renal secretion. This case resolved the biochemical conundrum in previous reports of Miller syndrome patients, and opened the possibility of rapid biochemical screening.
Keywords
Cyt CUQH2DHOuridine monophosphatecytochrome-P450DHODHGGTUMPALTFMNCyPLC-MS/MSASTalanine transaminaseEDTAethylenediamine-tetraacetic acidOrotic acidaspartate transaminasedihydroorotic acidcytochrome cScreeningflavin mononucleotideMitochondriaHigh performance liquid chromatography-tandem mass spectrometryGamma-glutamyl transferase
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Authors
John A. Duley, Michael G. Henman, Kevin H. Carpenter, Michael J. Bamshad, George A. Marshall, Chee Y. Ooi, Bridget Wilcken, Jason R. Pinner,