Direct assay of enzymes in heme biosynthesis for the detection of porphyrias by tandem mass spectrometry. Uroporphyrinogen decarboxylase and …

…, P Gatti, M Sadílek, CR Scott, F Tureček…

文献索引：Wang, Yuesong; Gatti, Paula; Sadilek, Martin; Scott, C. Ronald; Turecek, Frantisek; Gelb, Michael H. Analytical Chemistry, 2008 , vol. 80, # 7 p. 2599 - 2605

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被引用次数: 13

摘要

We report new assays of enzymes uroporphyrinogen decarboxylase (UROD) and coproporphyrinogen III oxidase (CPO) in the heme biosynthetic pathway. The assays were developed for use in clinical diagnostics of inherited disorders porphyria cutanea tarda and hereditary coproporphyria, respectively. Electrospray ionization tandem mass spectrometry is used to monitor the decarboxylation of pentaporphyrinogen I or uroporphyrinogen III ...