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Diagnosis of Creatine Metabolism Disorders by Determining Creatine and Guanidinoacetate in Plasma and Urine

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Clinical Applications of Mass Spectrometry

Part of the book series: Methods in Molecular Biology ((MIMB,volume 603))

Abstract

Creatine metabolism disorders include a creatine transporter deficiency, as well as, deficiencies of two enzymes involved in creatine synthesis, arginine–glycine amidinotransferase (AGAT) and guanidinoacetate methyltransferase (GAMT). Laboratory diagnosis of these disorders relies on the determination of creatine and guanidinoacetate in both plasma and urine. Here we describe a rapid HPLC/MS/MS method for these measurements using a normal phase HILIC column after analyte derivatization.

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Authors and Affiliations

  1. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA

    Qin Sun & William E. O’Brien

Authors
  1. Qin Sun
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  2. William E. O’Brien
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Editors and Affiliations

  1. Dept. Pathology & Laboratory Medicine, Children's Mercy Hospital, Gillham Road 2401, Kansas City, 64108, U.S.A.

    Uttam Garg

  2. Dept. Pathology & Laboratory Medicine, University of North Carolina, Chapel Hill, 27599-7525, U.S.A.

    Catherine A. Hammett-Stabler

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© 2010 Humana Press, a part of Springer Science+Business Media, LLC

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Sun, Q., O’Brien, W.E. (2010). Diagnosis of Creatine Metabolism Disorders by Determining Creatine and Guanidinoacetate in Plasma and Urine. In: Garg, U., Hammett-Stabler, C. (eds) Clinical Applications of Mass Spectrometry. Methods in Molecular Biology, vol 603. Humana Press. https://doi.org/10.1007/978-1-60761-459-3_17

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  • DOI: https://doi.org/10.1007/978-1-60761-459-3_17

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  • Publisher Name: Humana Press

  • Print ISBN: 978-1-60761-458-6

  • Online ISBN: 978-1-60761-459-3

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