TY - JOUR
T1 - [1 H] Magnetic resonance spectroscopy of urine
T2 - Diagnosis of a guanidinoacetate methyl transferase deficiency case
AU - Tassini, Maria
AU - Zannolli, Raffaella
AU - Buoni, Sabrina
AU - Engelke, Udo
AU - Vivi, Antonio
AU - Valensin, Gianni
AU - Salomons, Gajja S.
AU - De Nicola, Anna
AU - Strambi, Mirella
AU - Monti, Lucia
AU - Morava, Eva
AU - Wevers, Ron A.
AU - Hayek, Joseph
PY - 2010/1
Y1 - 2010/1
N2 - 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.
AB - 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.
KW - Epilepsy
KW - Guanidinoacetate methyl transferase deficiency
KW - Guanidinoacetic acid
KW - Urine [1H] magnetic resonance spectroscopy
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U2 - 10.1177/0883073809336120
DO - 10.1177/0883073809336120
M3 - Article
C2 - 19461121
AN - SCOPUS:75649097084
SN - 0883-0738
VL - 25
SP - 98
EP - 101
JO - Journal of child neurology
JF - Journal of child neurology
IS - 1
ER -