Identification of potential interferents of methylmalonic acid: A previously unrecognized pitfall in clinical diagnostics and newborn screening

Péter Monostori,Markus Godejohann,Joachim Janda,Zsolt Galla,Gábor Rácz,Glynis Klinke,Ildikó Szatmári,Petra Zsidegh, Dirk Kohlmüller,Stefan Kölker,Georg F Hoffmann,Gwendolyn Gramer,Jürgen G Okun

Clinical Biochemistry（2023）

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摘要

•Interferents of methylmalonic acid can lead to invalid diagnoses in clinical assays.•Samples from patients with propionic and methylmalonic acidurias were analyzed.•Six isobaric interferents were detected in serum, urine and dried blood spots.•QTOF HR–MS, MS/MS, NMR, HPLC and UPLC techniques were used for identification.•The results facilitate diagnostic and quantitative reliability in newborn screening.

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关键词

3OHPA,C2,C3,DBS,ESI,HMBC,HPLC,HSQC,IS,MCA,MMA,MS/MS,NBS,NMR,OMIM (Database),PA,QTOF HR–MS,SPE,TOCSY,UPLC

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