Document Detail

Guanidinoacetate methyltransferase (GAMT) deficiency diagnosed by proton NMR spectroscopy of body fluids.
MedLine Citation:
PMID:  19288536     Owner:  NLM     Status:  MEDLINE    
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 (1)H NMR spectroscopy. The urine 1D (1)H 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 (1)H 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 (1)H NMR spectra of CSF). Due to overlap by other resonances, the doublet of GAA could not be observed. Our data demonstrate that (1)H NMR spectroscopy of urine and CSF can be used to diagnose patients with GAMT deficiency.
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; Eva Morava; Ron A Wevers
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  NMR in biomedicine     Volume:  22     ISSN:  1099-1492     ISO Abbreviation:  NMR Biomed     Publication Date:  2009 Jun 
Date Detail:
Created Date:  2009-06-08     Completed Date:  2009-08-12     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8915233     Medline TA:  NMR Biomed     Country:  England    
Other Details:
Languages:  eng     Pagination:  538-44     Citation Subset:  IM    
Copyright Information:
2009 John Wiley & Sons, Ltd.
Laboratory of Pediatrics and Neurology, Nijmegen Medical Center, Radboud University, Nijmegen, The Netherlands.
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MeSH Terms
Body Fluids / enzymology*
Child, Preschool
Creatine / biosynthesis
Glycine / analogs & derivatives,  blood,  cerebrospinal fluid,  chemistry,  urine
Guanidinoacetate N-Methyltransferase / deficiency*
Hydrogen-Ion Concentration
Magnetic Resonance Spectroscopy / methods*
Reference Values
Reg. No./Substance:
0/Protons; 352-97-6/glycocyamine; 56-40-6/Glycine; 57-00-1/Creatine; EC N-Methyltransferase

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