Guanidinoacetate methyltransferase (GAMT) deficiency diagnosed by proton NMR spectroscopy of body fluids

Udo F.H. Engelke, Maria Tassini, Joseph Hayek, Maaike de Vries, Appie Bilos, Antonio Vivi, Gianni Valensin, Sabrina Buoni, Raffaella Zannolli, Wim Brussel, Berry Kremer, Gajja S. Salomons, Monique J.B.M. Veendrick-Meekes, Leo A.J. Kluijtmans, Éva Morava, Ron A. Wevers

Research output: Contribution to journalArticlepeer-review

21 Scopus citations


In patients with guanidinoacetate methyltransferase (GAMT) deficiency several parameters may point towards the diagnosis of GAMT deficiency. These include the low levels of creatine and creatinine in urine, the high concentration of guanidinoacetic acid (GAA) in urine and the low levels of creatine and creatinine in the cerebrospinal fluid (CSF). In this study, body fluids from 10 GAMT deficient patients were analysed using 1H NMR spectroscopy. The urine 1D 1H NMR spectra of all the patients showed a doublet resonance at 3.98 ppm (pH 2.50) derived from GAA present in high concentration. For this compound, a good recovery and good correlation was found between an LC-MS/MS method and 1H NMR spectroscopy. In CSF NMR spectra of these patients, the singlet resonances of creatine and creatinine (3.05 and 3.13 ppm, respectively) were absent (normally always present in 1H NMR spectra of CSF). Due to overlap by other resonances, the doublet of GAA could not be observed. Our data demonstrate that 1H NMR spectroscopy of urine and CSF can be used to diagnose patients with GAMT deficiency.

Original languageEnglish (US)
Pages (from-to)538-544
Number of pages7
JournalNMR in Biomedicine
Issue number5
StatePublished - 2009


  • Creatine
  • Creatine biosynthesis
  • Creatinine
  • Guanidino-acetic acid
  • Guanidinoacetate methyltransferase
  • In vitro H NMR spectroscopy
  • L-arginine:glycine amidinotransferase

ASJC Scopus subject areas

  • Molecular Medicine
  • Radiology Nuclear Medicine and imaging
  • Spectroscopy


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