C-13 NMR spectroscopy: a convenient tool for detection of argininosuccinicaciduria

Proton decoupled high resolution C-13 NMR spectra of argininosuccinie 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 pre sence of this metabolite in the investigated sample. The method additionall y enables simultaneous rough estimation of the metabolite concentration. In order to check the practicability of the usage of this spectroscopy for di agnostic purposes, the spectra of several unprocessed urine samples have be en recorded including three from patients with argininosuccinic aciduria. I t has been concluded that C-13 WR spectroscopy can be a convenient method o f recognising the above syndrome and probably many other inborn metabolic e rrors which manifest themselves with the excretion of the marker metabolite in amounts comparable to (or larger than) creatinine. (C) 2001 Elsevier Sc ience B.V. All rights reserved.