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.
MeSH terms
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Amidinotransferases / deficiency
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Chromatography, High Pressure Liquid / methods
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Creatine / blood*
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Creatine / urine*
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Glycine / analogs & derivatives*
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Glycine / blood
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Glycine / urine
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Guanidinoacetate N-Methyltransferase / deficiency
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Humans
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Metabolic Diseases / blood
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Metabolic Diseases / diagnosis*
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Metabolic Diseases / urine
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Tandem Mass Spectrometry
Substances
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Guanidinoacetate N-Methyltransferase
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Amidinotransferases
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glycine amidinotransferase
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glycocyamine
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Creatine
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Glycine