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Matrix‐assisted laser desorption/ionization for simultaneous quantitation of (acyl‐)carnitines and organic acids in dried blood spots
Author(s) -
Ostermann Katharina M.,
Dieplinger Rebecca,
Lutsch Nikola M.,
Strupat Kerstin,
Metz Thomas F.,
Mechtler Thomas P.,
Kasper David C.
Publication year - 2013
Publication title -
rapid communications in mass spectrometry
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.528
H-Index - 136
eISSN - 1097-0231
pISSN - 0951-4198
DOI - 10.1002/rcm.6597
Subject(s) - chemistry , orbitrap , mass spectrometry , chromatography , metabolite , matrix assisted laser desorption/ionization , biochemistry , desorption , organic chemistry , adsorption
RATIONALE Screening for inborn errors of metabolism using mass spectrometry is part of nationwide newborn screening programs and involves the detection of disease relevant (acyl‐)carnitines and organic acids from dried blood spots. Matrix‐Assisted Laser Desorption/Ionization Mass Spectrometry (MALDI‐MS) is a well‐established tool for proteomics approaches. In recent years, this technique has become more and more integrated in analysis and identification of small metabolites and disease biomarkers in daily clinical laboratories. METHODS We used a combination of both MALDI and high‐resolution accurate mass (HR/AM) mass spectrometry using a linear ion trap‐Orbitrap for the identification of small molecules from dried blood spots that serve as biomarkers for inborn errors of metabolism. The levels of detected metabolite species were compared between healthy newborns and affected patients with various inborn errors of metabolism using isotopically labeled internal standards and new bioinformatics software, respectively. RESULTS (Acyl‐)carnitine levels from normal and affected patients could be quantified and differentiated. Additionally, using the high resolving power of full scan Orbitrap mass spectrometry and novel software tools we demonstrated the identification and quantification of disease‐specific organic acids. CONCLUSIONS MALDI‐HR/AM and full scan spectra to obtain information for the metabolic status of patients is a promising complementary approach to electrospray ionization mass spectrometry by simplified sample preparation, facilitating the screening of hundreds of metabolites from small sample volumes. Copyright © 2013 John Wiley & Sons, Ltd.