Detection of acylglycines in urine by 1H and 13C NMR for the diagnosis of inborn metabolic diseases.

Abstract

A range of inborn metabolic diseases result in abnormal accumulation of acylglycines in body fluids. Therefore, detection of these metabolites is important for diagnostic purposes. 1 H and 13 C NMR spectroscopies have successfully been applied for both qualitative and quantitative determinations of various acylglycines in urine samples from patients suffering from metabolic diseases connected with excretion of these compounds. Various acylglycines were identified in test urine samples from 15 patients suffering from five different metabolic diseases, providing information which could be crucial for their diagnoses. The paper reports complete 1 H and 13 C NMR data of 11 acylglycines, which is essential for this type of NMR analysis of body fluids. NMR spectroscopy has been proven effective in determining the presence as well as the levels of acylglycines in urine. The proposed method is rapid, simple and requires minimal sample treatment.

1H-Nuclear Magnetic Resonance Analysis of Urine as Diagnostic Tool for Organic Acidemias and Aminoacidopathies

“…Therefore, in this work, we evaluated the utility of 1 H-NMR with the sensitivity expected for a field strength corresponding to 400 MHz that is of lower resolution than that used previously. The results demonstrated the feasibility of clearly identifying characteristic biochemical profiles for nine different smIEM disorders that were comparable and complementary to those obtained by GC-MS analysis, as previously reported in the literature [13][14][15][16]21,23,24].…”

Orotic Acid in Water Solution, a DFT and 13C NMR Spectroscopic Study

“…Continuing our NMR studies on solution structures of biologically important compounds, − we devote this work to orotic acid, known also as vitamin B-13, which is an important natural product, structurally related to uracil. In living organisms it is a precursor of pyrimidine bases of nucleic acids .…”