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Clinical Applications of Capillary Electrophoresis pp 43–56Cite as

Expanded Newborn Screening of Inborn Errors of Metabolism by Capillary Electrophoresis-Electrospray Ionization-Mass Spectrometry (CE-ESI-MS)

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Part of the book series: Methods in Molecular Biology ((MIMB,volume 919))

Abstract

Expanded newborn screening of inborn errors of metabolism (IEM) based on tandem mass spectrometry technology has emerged as one of the most successful preventative healthcare initiatives for presymptomatic diagnosis and treatment of rare yet treatable genetic diseases. However, confirmatory testing using methods with improved specificity is required in clinical laboratories to improve the positive predictive value for certain classes of IEMs due to their high rates of false positives. Here, we describe recent advances for comprehensive profiling of amino acids and acylcarnitines derived from dried blood spot extracts or plasma using capillary electrophoresis-electrospray ionization-mass spectrometry (CE-ESI-MS) that allows for resolution of major isobaric/isomeric interferences without complicated sample handling. The integration of online sample preconcentration together with desalting in CE-ESI-MS enables the direct analysis of hydrophilic amino acids, surface-active acylcarnitines, as well as labile thiols under a single format when using a simple aqueous buffer electrolyte system.

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Acknowledgments

The author wishes to acknowledge funding support from National Science and Engineering Research Council of Canada.

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Authors and Affiliations

  1. Department of Chemistry and Chemical Biology, McMaster University, Hamilton, ON, Canada

    Philip Britz-McKibbin

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  1. Philip Britz-McKibbin
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Correspondence to Philip Britz-McKibbin .

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Editors and Affiliations

  1. Rockville Pike 9000, Bethesda, 20892, Maryland, USA

    Terry M. Phillips

  2. NIBIB, National Institutes of Health, Rockville Pike 9000, Bethesda, 20892, Maryland, USA

    Heather Kalish

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Britz-McKibbin, P. (2013). Expanded Newborn Screening of Inborn Errors of Metabolism by Capillary Electrophoresis-Electrospray Ionization-Mass Spectrometry (CE-ESI-MS). In: Phillips, T., Kalish, H. (eds) Clinical Applications of Capillary Electrophoresis. Methods in Molecular Biology, vol 919. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-62703-029-8_5

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  • DOI: https://doi.org/10.1007/978-1-62703-029-8_5

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  • Publisher Name: Humana Press, Totowa, NJ

  • Print ISBN: 978-1-62703-028-1

  • Online ISBN: 978-1-62703-029-8

  • eBook Packages: Springer Protocols

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