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Laboratory Diagnosis of Cerebral Creatine Deficiency Syndromes by Determining Creatine and Guanidinoacetate in Plasma and Urine

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Clinical Applications of Mass Spectrometry in Biomolecular Analysis

Part of the book series: Methods in Molecular Biology ((MIMB,volume 2546))

Abstract

Cerebral creatine deficiency syndromes are caused by the dysfunctional creatine biosynthesis or transport and comprise three hereditary neurodevelopmental defects including arginine-glycine amidinotransferase (AGAT), guanidinoacetate methyltransferase (GAMT), and creatine transporter deficiencies. All conditions are characterized by seizures, intellectual disability, and behavioral abnormalities. Laboratory diagnosis of these disorders relies on the determination of creatine and guanidinoacetate concentrations in both plasma and urine. Here we describe a rapid quantitative UPLC/MS/MS method for the simultaneous determination of these analytes using a normal-phase HILIC column after analyte derivatization. The approach is suitable for neonatal screening follow-ups and monitoring of the treatment for creatine deficiency syndromes.

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Author information

Authors and Affiliations

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

    Ning Liu & Qin Sun

  2. Baylor Genetics, Houston, TX, USA

    Ning Liu & Qin Sun

Authors
  1. Ning Liu
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  2. Qin Sun
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Corresponding author

Correspondence to Qin Sun .

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Editors and Affiliations

  1. Department of Pathology and Laboratory Medicine, Children’s Mercy Hospital, Kansas City, MO, USA

    Uttam Garg

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Liu, N., Sun, Q. (2022). Laboratory Diagnosis of Cerebral Creatine Deficiency Syndromes by Determining Creatine and Guanidinoacetate in Plasma and Urine. In: Garg, U. (eds) Clinical Applications of Mass Spectrometry in Biomolecular Analysis. Methods in Molecular Biology, vol 2546. Humana, New York, NY. https://doi.org/10.1007/978-1-0716-2565-1_12

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  • DOI: https://doi.org/10.1007/978-1-0716-2565-1_12

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  • Publisher Name: Humana, New York, NY

  • Print ISBN: 978-1-0716-2564-4

  • Online ISBN: 978-1-0716-2565-1

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