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Laboratory Guide to the Methods in Biochemical Genetics pp 739–749Cite as

Creatine and its Metabolites

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Abstract

Guanidinoacetate (GA), Creatine (Cr), and creatinine are small polar molecules. It is well recognized that Cr plays an important role in energy transmission and storage in cells and tissues with high energy demand. Recent developments have revealed alteration in the levels of the above-mentioned metabolites in different disease states, i.e. guanidinoacetate methyltransferase (GAMT) deficiency, L-arginine:glycine amidino transferase (AGAT) deficiency and Cr transporter (SLC6A8) deficiency. This group of diseases is referred to as creatine deficiency syndromes (CDS) and can be detected in vivo by 1H magnetic resonance spectroscopy (MRS) of the brain. Quantification of GA and Cr in body fluids forms the biochemical basis for the (differential) diagnosis of the CDS. This current chapter describes a detailed procedure for the simultaneous measurement of GA and Cr in urine, plasma, and cerebrospinal fluid employing Stable-Isotope Dilution Gas Chromatography-Mass Spectrometry. In addition, recent analytical developments using tandem mass spectrometry for the measurement of GA and Cr are briefly discussed.

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Author information

Authors and Affiliations

  1. Clinical Chemistry, Metabolic Unit, VU University Medical Center, 7057, 1007 MB, Amsterdam, Netherlands

    Eduard A. Struys

  2. Department of Metabolic and Endocrine Diseases, University Medical Center Utrecht, Lundlaan 6, 3584 EA, Utrecht, Netherlands

    Nanda Verhoeven-Duif

  3. Clinical Chemistry, Metabolic Unit, VU University Medical Center, 7057, 1007 MB, Amsterdam, Netherlands

    Cornelis Jakobs

Authors
  1. Eduard A. Struys
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  2. Nanda Verhoeven-Duif
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  3. Cornelis Jakobs
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Editor information

Editors and Affiliations

  1. Division of Clinical Chemistry and Biochemistry, University Children’s Hospital, Steinwiesstrasse 75, 8032, Zurich, Switzerland

    Nenad Blau

  2. Academic Medical Centre, Lab. Genetic Metabolic; Diseases Fo-224, University Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, Netherlands

    Marinius Duran

  3. Dept. of Molecular and Medical Genetics, Oregon Health & Science University, 3rd Avenue 2525, 97201, Portland, USA

    K. Michael Gibson

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© 2008 Springer-Verlag Berlin Heidelberg

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Struys, E., Verhoeven-Duif, N., Jakobs, C. (2008). Creatine and its Metabolites. In: Blau, N., Duran, M., Gibson, K. (eds) Laboratory Guide to the Methods in Biochemical Genetics. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-76698-8_32

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  • DOI: https://doi.org/10.1007/978-3-540-76698-8_32

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-540-76697-1

  • Online ISBN: 978-3-540-76698-8

  • eBook Packages: MedicineMedicine (R0)

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