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Amino Acid Profiling for the Diagnosis of Inborn Errors of Metabolism

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Metabolic Profiling

Part of the book series: Methods in Molecular Biology ((MIMB,volume 708))

Abstract

The diagnosis of inherited metabolic disorders of amino acid (AA) metabolism is based on the qualitative and/or the quantitative analysis of AAs, mainly in blood and urine. For years, the most widespread technique in use was ion-exchange chromatography followed by post-column derivatization with ninhydrin, a method which is the basis of numerous automated AA analyzers with a throughput of about eight samples/day. The emergence of tandem mass spectrometry (MS/MS) coupled to liquid chromatography (LC) has made possible the measurement of many metabolites for the diagnosis of inborn errors of metabolism. The LC-MS/MS method described here allows the clinical diagnosis of AA disorders by analysis of underivatized AAs and derivative molecules in various biological samples prepared by methanol precipitation. AAs are separated by ion-pairing reversed-phase LC, using perfluorocarboxylic acid as an ion-pairing agent. Each AA is detected in MS/MS-positive ionization mode by its specific transition. The method allows the analysis of about 40 biological samples/day.

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Acknowledgments

The authors would like to thank Luc Anselmini for reading over this manuscript. The authors thank the journal Rapid Communication in Mass Spectrometry and Wiley Publishing for authorization to reproduce tables and figures from refs.(7–9).

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Authors and Affiliations

  1. Laboratoire des Maladies Héréditaires du Métabolisme et Dépistage Néonatal, Hospices Civils de Lyon, Centre de Biologie Est, Bron, France

    Monique Piraud, Séverine Ruet, Sylvie Boyer, Cécile Acquaviva, Pascale Clerc-Renaud, David Cheillan & Christine Vianey-Saban

Authors
  1. Monique Piraud
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  2. Séverine Ruet
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  3. Sylvie Boyer
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  4. Cécile Acquaviva
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  5. Pascale Clerc-Renaud
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  6. David Cheillan
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  7. Christine Vianey-Saban
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Corresponding author

Correspondence to Monique Piraud .

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Editors and Affiliations

  1. Fundamental & Computational Sciences Dir, Pacific Northwest National Laboratory, Battelle Boulevard 902, Richland, 99352, Washington, USA

    Thomas O. Metz

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Piraud, M. et al. (2011). Amino Acid Profiling for the Diagnosis of Inborn Errors of Metabolism. In: Metz, T. (eds) Metabolic Profiling. Methods in Molecular Biology, vol 708. Humana Press. https://doi.org/10.1007/978-1-61737-985-7_2

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  • DOI: https://doi.org/10.1007/978-1-61737-985-7_2

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  • Publisher Name: Humana Press

  • Print ISBN: 978-1-61737-984-0

  • Online ISBN: 978-1-61737-985-7

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