Related Experiment Video
Updated: Aug 15, 2026

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
Published on: June 25, 2010
Investigation of urea cycle enzyme disorders by 1H-NMR spectroscopy
S P Burns1, D A Woolf, J V Leonard
1Medical Unit (Cellular Mechanisms Research Group), London Hospital Medical College, UK.
Abstract:
High resolution proton nuclear magnetic resonance spectroscopy (1H-NMR) has been used to study patients with inborn errors of the urea cycle to evaluate further the diagnostic potential of this technique. The 1H-NMR metabolic profile from the urine of patients with citrullinaemia and argininosuccinic aciduria consistently demonstrated the presence of the diagnostic metabolites citrulline, N-acetylcitrulline and argininosuccinate, respectively. The profile from the urine of patients with ornithine carbamoyl transferase deficiency, is potentially diagnostic, but orotate was only detected in samples from three out of four patients. The characteristic fingerprint that each of the metabolites produces is unlike that of any other we have seen, including analogues of the metabolites which are structurally very similar such as arginine, ornithine and aspartate. The level of excretion of the metabolites from the patients with citrullinaemia and argininosuccinic aciduria has been well within the range of NMR detection.
More Related Videos
07:54Assessing Hepatic Metabolic Changes During Progressive Colonization of Germ-free Mouse by 1H NMR Spectroscopy
Published on: December 15, 2011
10:24NMR-Based Activity Assays for Determining Compound Inhibition, IC50 Values, Artifactual Activity, and Whole-Cell Activity of Nucleoside Ribohydrolases
Published on: June 30, 2019
Related Concept Videos
Urea Cycle
¹H NMR of Labile Protons: Deuterium (²H) Substitution
¹³C NMR: Distortionless Enhancement by Polarization Transfer (DEPT)
¹H NMR of Conformationally Flexible Molecules: Variable-Temperature NMR
NMR Spectroscopy Of Amines
2D NMR: Overview of Heteronuclear Correlation Techniques