13C NMR spectroscopy: a convenient tool for detection of argininosuccinic aciduria.
Proton decoupled high resolution 13C NMR spectra of argininosuccinic acid have been measured in a series of dilute water solutions of various acidity. These data have provided a basis for unequivocal determination of the presence of this metabolite in the investigated sample. The method additionally enables simultaneous rough estimation of the metabolite concentration. In order to check the practicability of the usage of this spectroscopy for diagnostic purposes, the spectra of several unprocessed urine samples have been recorded including three from patients with argininosuccinic aciduria. It has been concluded that 13C NMR spectroscopy can be a convenient method of recognising the above syndrome and probably many other inborn metabolic errors which manifest themselves with the excretion of the marker metabolite in amounts comparable to (or larger than) creatinine.
Krawczyk
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H
Faculty of Chemistry, Warsaw University of Technology, Noakowskiego 3, 00-664, Warsaw, Poland.
Gryff-Keller
A
A
Gradowska
W
W
Duran
M
M
Pronicka
E
E
D001125:Argininosuccinic Acid / Q000652:urine*; D002247:Carbon Isotopes; D006801:Humans; D009682:Magnetic Resonance Spectroscopy
D002247:Carbon Isotopes; D001125:Argininosuccinic Acid