[1 H] Magnetic resonance spectroscopy of urine: Diagnosis of a guanidinoacetate methyl transferase deficiency case

Maria Tassini, Raffaella Zannolli, Sabrina Buoni, Udo Engelke, Antonio Vivi, Gianni Valensin, Gajja S. Salomons, Anna De Nicola, Mirella Strambi, Lucia Monti, Eva Morava, Ron A. Wevers, Joseph Hayek

Research output: Contribution to journalArticle

1 Scopus citations

Abstract

For the first time, the use of urine [1H] magnetic resonance spectroscopy has allowed the detection of 1 case of guanidinoacetate methyl transferase in a database sample of 1500 pediatric patients with a diagnosis of central nervous system impairment of unknown origin. The urine [1H] magnetic resonance spectroscopy of a 9-year-old child, having severe epilepsy and nonprogressive mental and motor retardation with no apparent cause, revealed a possible guanidinoacetic acid increase. The definitive assignment of guanidinoacetic acid was checked by addition of pure substance to the urine sample and by measuring [1H]-[1H] correlation spectroscopy. Diagnosis of guanidinoacetate methyl transferase deficiency was further confirmed by liquid chromatographyg-mass spectrometry, brain [ 1H] magnetic resonance spectroscopy, and mutational analysis of the guanidinoacetate methyl transferase gene. The replacement therapy was promptly started and, after 1 year, the child was seizure free. We conclude that for this case, urine [1H] magnetic resonance spectroscopy screening was able to diagnose guanidinoacetate methyl transferase deficiency.

Original languageEnglish (US)
Pages (from-to)98-101
Number of pages4
JournalJournal of child neurology
Volume25
Issue number1
DOIs
StatePublished - Jan 1 2010

Keywords

  • Epilepsy
  • Guanidinoacetate methyl transferase deficiency
  • Guanidinoacetic acid
  • Urine [1H] magnetic resonance spectroscopy

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

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    Tassini, M., Zannolli, R., Buoni, S., Engelke, U., Vivi, A., Valensin, G., Salomons, G. S., De Nicola, A., Strambi, M., Monti, L., Morava, E., Wevers, R. A., & Hayek, J. (2010). [1 H] Magnetic resonance spectroscopy of urine: Diagnosis of a guanidinoacetate methyl transferase deficiency case. Journal of child neurology, 25(1), 98-101. https://doi.org/10.1177/0883073809336120