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

Determination of methylmalonic acid (MMA) from dried blood spots (DBS) is commonly performed in clinical diagnostics and newborn screening for propionic acidemia (PA) and methylmalonic acidemia. Isobaric compounds of MMA having the same mass can affect diagnostic reliability and quantitative results...

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Main Authors: Monostori, Péter (Author) , Godejohann, Markus (Author) , Janda, Joachim (Author) , Galla, Zsolt (Author) , Rácz, Gábor (Author) , Klinke, Glynis (Author) , Szatmári, Ildikó (Author) , Zsidegh, Petra (Author) , Kohlmüller, Dirk (Author) , Kölker, Stefan (Author) , Hoffmann, Georg F. (Author) , Gramer, Gwendolyn (Author) , Okun, Jürgen G. (Author)
Format: Article (Journal)
Language:English
Published: 2023
In: Clinical biochemistry
Year: 2023, Volume: 111, Pages: 72-80
ISSN:1873-2933
DOI:10.1016/j.clinbiochem.2022.09.010
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1016/j.clinbiochem.2022.09.010
Verlag, lizenzpflichtig, Volltext: https://www.sciencedirect.com/science/article/pii/S0009912022002247
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Author Notes: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
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Summary:Determination of methylmalonic acid (MMA) from dried blood spots (DBS) is commonly performed in clinical diagnostics and newborn screening for propionic acidemia (PA) and methylmalonic acidemia. Isobaric compounds of MMA having the same mass can affect diagnostic reliability and quantitative results, which represents a previously unrecognized pitfall in clinical assays for MMA. We set out to identify interfering substances of MMA in DBS, serum and urine samples from confirmed patients with PA and methylmalonic acidemia.
Item Description:Online veröffentlicht am 3. Oktober 2022
Gesehen am 16.11.2023
Physical Description:Online Resource
ISSN:1873-2933
DOI:10.1016/j.clinbiochem.2022.09.010