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Diagnostic value of urinary orotic acid levels: applicable separation methods
Costantino Salerno1, Carlo Crifò
1Department of Biochemical Sciences and Clinical Biochemistry Laboratory, University of Roma La Sapienza, via dei Sardi 58, 00185 Rome, Italy. costantino.salerno@uniroma1.it
Summary
Urinary orotic acid testing aids in diagnosing hereditary orotic aciduria and differentiating hyperammonemia disorders. This review covers methods for its detection in urine, reducing the need for invasive tissue biopsies.
Area of Science:
- Biochemistry
- Clinical Chemistry
- Metabolic Disorders
Background:
- Hereditary orotic aciduria and hyperammonemia are serious metabolic disorders.
- Accurate diagnosis is crucial for effective management and treatment.
- Current diagnostic methods can be invasive or limited in scope.
Purpose of the Study:
- To review metabolic aberrations associated with elevated urinary orotic acid.
- To summarize methods for orotic acid separation, identification, and quantification in urine.
- To assess analytical techniques for improved diagnostic accuracy.
Main Methods:
- Review of published literature on urinary orotic acid analysis.
- Discussion of chromatographic techniques: High-Performance Liquid Chromatography (HPLC), Gas Chromatography (GC).
- Evaluation of Capillary Electrophoresis (CE) and other analytical methods.
Main Results:
- Urinary orotic acid determination is valuable for screening hereditary orotic aciduria.
- Orotic acid analysis helps differentiate hyperammonemia disorders not diagnosed by amino acid chromatography.
- Various chromatographic and electrophoretic methods offer reliable detection and quantification.
Conclusions:
- Urinary orotic acid measurement is an effective, non-invasive diagnostic tool.
- Advanced analytical techniques enhance the reliability and efficiency of orotic acid determination.
- This approach can reduce the need for tissue biopsies in diagnosing metabolic disorders.