Guanidinoacetate methyltransferase (GAMT) deficiency diagnosed by proton NMR spectroscopy of body fluids.
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Publication year
2009Source
NMR in Biomedicine, 22, 5, (2009), pp. 538-44ISSN
Publication type
Article / Letter to editor
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Organization
Laboratory of Genetic, Endocrine and Metabolic Diseases
Paediatrics - OUD tm 2017
Pharmacology-Toxicology
Neurology
Former Organization
Pharmacology/Toxicology
Journal title
NMR in Biomedicine
Volume
vol. 22
Issue
iss. 5
Page start
p. 538
Page end
p. 44
Subject
DCN 2: Functional Neurogenomics; IGMD 3: Genomic disorders and inherited multi-system disorders; IGMD 4: Glycostation disorders; NCMLS 4: Energy and redox metabolism; NCMLS 5: Membrane transport and intracellular motilityAbstract
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.
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- Faculty of Medical Sciences [90373]
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