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

Protocol
First Online:
Part of the Methods in Molecular Biology book series (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.

Key words

Creatine guanidinoacetate arginine–glycine amidinotransferase AGAT guanidinoacetate methyltransferase GAMT creatine transporter mass spectrometry 
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Copyright information

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

Authors and Affiliations

  1. 1.Department of Molecular and Human GeneticsBaylor College of MedicineHoustonUSA

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