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…

Index: 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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Citation Number: 13

Abstract

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 ...