Direct analysis of dried blood spots by in-line desorption combined with high-resolution chromatography and mass spectrometry for quantification of maple syrup urine disease biomarkers leucine and isoleucine

A in-line desorption device was developed, which allows for direct analysis of dried blood spots eliminating the need for punching disks from the filter paper cards. Using this device, we have validated a method to quantify biomarkers related to maple syrup urine disease (MSUD), a metabolism disorde...

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Bibliographic Details
Published in:Analytical and bioanalytical chemistry 2011-04, Vol.400 (1), p.237-244
Main Authors: Miller, John H. IV, Poston, Philip A, Karnes, H. Thomas
Format: Article
Language:English
Subjects:
Amino acids
Analysis
Analytical Chemistry
Biochemistry
Biological markers
Biomarkers - blood
Cards
Characterization and Evaluation of Materials
Chemistry
Chemistry and Materials Science
Chromatography
Chromatography, Liquid - methods
Desorption
Devices
Direct analysis
Exact sciences and technology
Food Science
Human whole blood
Humans
Isoleucine - blood
Laboratory Medicine
LC/MS/MS
Leucine
Leucine - blood
Maple syrup urine disease
Maple Syrup Urine Disease - blood
Mass spectrometry
Monitoring/Environmental Analysis
Newborn screening
Original Paper
Reference Standards
Spectrometric and optical methods
Spectrometry, Mass, Electrospray Ionization - methods
Spots
Tandem Mass Spectrometry - methods
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Summary:A in-line desorption device was developed, which allows for direct analysis of dried blood spots eliminating the need for punching disks from the filter paper cards. Using this device, we have validated a method to quantify biomarkers related to maple syrup urine disease (MSUD), a metabolism disorder that often requires a second-tier test for confirmation. Direct analysis of newborn screening cards is conducted in-line with a high-resolution chromatographic separation with mass spectrometry using electrospray ionization and multiple-reaction monitoring. Quantification of leucine and isoleucine using an isotopically labeled internal standard encompasses a range suitable for MSUD assessment. Precision and accuracy of the technique was acceptable with relative standard deviations within 10% at three fortified concentrations and an unfortified level. A post-column infusion test shows minimum matrix suppression was observed using this direct sampling technique.
ISSN:1618-2642
1618-2650
DOI:10.1007/s00216-011-4740-x