Inborn Errors of Amino-Acid Metabolism Studied by Proton Nuclear Magnetic Resonance

Possibilities of selective screening for inborn errors of metabolism using high-resolution 1H-FT-NMR spectrometry

“…Plots of chemical shift as a function of pH yield titration curves [5]. We verified this with glutaric acid as an example: The resonance values of the a-protons shifted from 5.71ppm at pH 1.8 to 5.14ppm at pH 6 publish more reliable data. Although the chosen pH of 2.5 is not the only one possible, a certain value should be set for comparability of results.…”

“…We would like to draw attention to another application of NMR spectrometry concerning the management of inherited metabolic diseases: This is quick and simple therapy monitoring [6], which is possible without investing much research work, if only an appropriate instrument is available. Drug monitoring is a further possible application of this promising analytical method [2].…”

Advances in NMR-based biofluid analysis and metabolite profiling

“…Generally, the complex and severely overlapped 1 H NMR biofluid spectra make it difficult to detect many low-concentration metabolites. Heteronuclei such as 13 C and 15 N exhibit broader chemical shift dispersions and fewer couplings, and hence provide simpler spectra than 1 H; thus, utilization of such nuclei potentially promises high utility in metabolomics. However, neither 13 C nor 15 N is naturally highly abundant.…”

“…Heteronuclei such as 13 C and 15 N exhibit broader chemical shift dispersions and fewer couplings, and hence provide simpler spectra than 1 H; thus, utilization of such nuclei potentially promises high utility in metabolomics. However, neither 13 C nor 15 N is naturally highly abundant. Hence, NMR experiments involving such low abundant nuclei have poor sensitivity.…”

“…The application of NMR to the analysis of biofluids dates back to early 1980s for the study of multiparametric metabolite compositions. [8][9][10][11][12][13] These studies have been expanded, driven to a large extent by the continuous improvement of NMR techniques in sensitivity, resolution, and especially after computer-based pattern recognition and statistical prediction approaches were introduced to help to interpret the NMR metabolic data in early 1990s. 14,15 Nicholson and co-workers coined the term ''metabonomics'' in 1999, in analogy to genomics and proteomics; 16 although in a sense, the developments in NMR-based multivariate metabolite analysis have been very much concurrent with those in the other OMIC's fields.…”