A Severe Neonatal Argininosuccinic Aciduria Case Investigated by 1H NMR Spectroscopy

Abstract

The NMR urine analysis of a term newborn with severe general deterioration of the clinical state revealed the presence in high concentrations of orotic and argininosuccinic acids. The newborn was suspected for an intoxication-like inborn error of metabolism, and the urine samples were followed up by NMR spectroscopy for several days in order to assess the metabolic pattern. The identified markers led to a definitive biochemical diagnosis of argininosuccinic aciduria.

Monitoring Methylmalonic Aciduria by NMR Urinomics

“…The 1 H-NMR spectra were recorded with NOSEY water presaturation. For initial diagnosis the NMR spectra have been recorded at 400 MHz in quantitative conditions with a pulse sequence using 32 scans, a 90 • pulse, 30 s relaxation delay, 3 s CW irradiation, and 4 s acquisition time as previously described [14][15][16][17]20,76]. The second NMR analysis on another aliquot was performed at 600 MHz with pulse sequences and parameters as delivered with Bruker Biospin IVDr methods (V.2.0), which allow fast acquisition of 1 H-NMR spectra using 32 scans, a 90 • pulse, 4 s relaxation delay with simultaneous CW irradiation, and 2.7 s acquisition time with an ERETIC type of signal as the quantitation reference and J-Resolved NMR spectra for signal assignment support (4 min total experimental time for each type of spectrum) [77].…”

“…The same group also described the comparison of metabolite concentrations for control populations from two different geographical regions [13]. We also published metabolite concentrations for normal and diabetes groups from Eastern Europe (Bucharest), and we discussed the results in comparison with previously published data [14,15]-our interests covering diagnoses of various metabolic disorders [16][17][18][19].…”

NMR proven albumin interaction with metabolites in complex mixtures

“…We have been using NMR spectroscopy to study metabolites mixtures in complex biological fluids for diagnosing and monitoring metabolic disorders, [18][19][20][21][22][23][24] and lipoprotein profiling for cardiovascular conditions as well as pollutants and food induced effects. 25,26 We are currently expanding our interest and NMR approaches to investigate metabolite-protein binding interactions, namely to explore interactions between bovine serum albumin (BSA) and two mixtures of several metabolites.…”

A Real-Life Reproducibility Assessment for NMR Metabolomics

“…Our group is a good example where interests in various NMR topics coexist. Thus, we are involved in advanced structure elucidation studies using multinuclear NMR [31] and materials characterization [32], as well as human [33][34][35][36][37][38], animal [39] and vegetal metabolomics [40,41]. We currently use four what we call "multipurpose" NMR instruments both for our own research interests and as an NMR service for many groups around the country.…”

“…We currently use four what we call "multipurpose" NMR instruments both for our own research interests and as an NMR service for many groups around the country. In terms of NMR metabolomics, we have long-term expertise [33][34][35][36][37][38][39][40][41], also being involved in one of the first multicenter trials for plasma quantitation by NMR [42]. Over the years, we have been using and exchanging five generations of NMR instruments, currently with the latest generation in use.…”