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

Autor: J. Hayek, Monique J. B. M. Veendrick-Meekes, Maria Tassini, Raffaella Zannolli, Maaike de Vries, Appie Bilos, Gianni Valensin, Ron A. Wevers, Eva Morava, Udo F. H. Engelke, Leo A. J. Kluijtmans, Antonio Vivi, Wim Brussel, Sabrina Buoni, Berry Kremer, Gajja S. Salomons
Přispěvatelé: Internal Medicine Specializations, Clinical chemistry, Other Research
Rok vydání: 2009
Předmět:
Adult
Male
Magnetic Resonance Spectroscopy
creatine biosynthesis
Energy and redox metabolism [NCMLS 4]
Glycine
Membrane transport and intracellular motility [NCMLS 5]
L-arginine
in vitro (1)H NMR spectroscopy
Urine
Creatine
guanidinoacetate methyltransferase
Genomic disorders and inherited multi-system disorders [IGMD 3]
chemistry.chemical_compound
Cerebrospinal fluid
Reference Values
guanidino-acetic acid
glycine amidinotransferase
Humans
Radiology
Nuclear Medicine and imaging
Child
Spectroscopy
Creatinine
Chromatography
creatinine
Infant
Nuclear magnetic resonance spectroscopy
Hydrogen-Ion Concentration
Glycostation disorders [IGMD 4]
Body Fluids
Guanidinoacetate N-methyltransferase
NMR spectra database
creatine
chemistry
Child
Preschool
Proton NMR
Molecular Medicine
Female
Guanidinoacetate N-Methyltransferase
Protons
Functional Neurogenomics [DCN 2]
Zdroj: Engelke, U F H, Tassini, M, Hayek, J, de Vries, M, Bilos, A, Vivi, A, Valensin, G, Buoni, S, Zannolli, R, Brussel, W, Kremer, B, Salomons, G S, Veendrick-Meekes, M J B M, Kluijtmans, L A J, Morava, E & Wevers, R A 2009, ' Guanidinoacetate methyltransferase (GAMT) deficiency diagnosed by proton NMR spectroscopy of body fluids ', NMR in Biomedicine, vol. 22, no. 5, pp. 538-544 . https://doi.org/10.1002/nbm.1367
NMR in Biomedicine, 22, 538-44
NMR in Biomedicine, 22(5), 538-544. John Wiley and Sons Ltd
NMR in Biomedicine, 22, 5, pp. 538-44
ISSN: 1099-1492
0952-3480
DOI: 10.1002/nbm.1367
Popis: 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. ispartof: NMR in Biomedicine vol:22 issue:5 pages:538-544 ispartof: location:England status: published
Databáze: OpenAIRE
Externí odkaz: