For the first time, the use or urine [H-1] 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 [H-1] 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 [H-1]-[H-1] correlation spectroscopy. Diagnosis of guanidinoacetate methyl transferase deficiency was further confirmed by liquid chromatography-mass spectrometry, brain [H-1] 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 [H-1] magnetic resonance spectroscopy screening was able to diagnose guanidinoacetate methyl transferase deficiency.
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|Titolo:||[(1)H] magnetic resonance spectroscopy of urine: diagnosis of a guanidinoacetate methyl transferase deficiency case|
|Citazione:||Tassini, M., Zannolli, R., Buoni, S., Engelke, U., Vivi, A., Valensin, G., et al. (2010). [(1)H] magnetic resonance spectroscopy of urine: diagnosis of a guanidinoacetate methyl transferase deficiency case. JOURNAL OF CHILD NEUROLOGY, 25, 98-101.|
|Appare nelle tipologie:||1.1 Articolo in rivista|
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