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 ].…”

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

“…1) [3][4][5]. The urea cycle and main associated pathways -image conceived according to literature data [3,6]. For simplicity, not all the substrate and products of each reaction are shown.…”