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[Quantitative analysis of urinary organic acid]
1Department of Clinical Pathology, Osaka Medical College, Takatsuki.
Rinsho Byori. the Japanese Journal of Clinical Pathology
|July 1, 1992
Summary
Accurate analysis of urinary organic acids using stable isotope dilution technique and GC/MS is crucial for diagnosing metabolic disorders. This method optimizes conditions for reliable clinical laboratory testing.
Area of Science:
- Clinical Chemistry
- Metabolomics
- Analytical Chemistry
Background:
- Urinary organic acids are key biomarkers for metabolic disorders.
- Accurate quantification is essential for diagnosis and monitoring.
- Current analytical methods require optimization for routine clinical use.
Observation:
- Solvent extraction and Gas Chromatography-Mass Spectrometry (GC/MS) were employed.
- The stable isotope dilution technique was utilized for precise quantification.
- Diagnostic cases, including ornithine transcarbamylase deficiency and multiple carboxylase deficiency, were presented.
Findings:
- Optimum conditions for solvent extraction and GC/MS analysis of urinary organic acids were established.
- The stable isotope dilution technique demonstrated high accuracy for quantitative analysis.
- Successful application in diagnosing specific inherited metabolic disorders was shown.
Implications:
- This optimized method provides a reliable approach for routine clinical laboratory examination.
- Accurate urinary organic acid profiling aids in early and precise diagnosis of metabolic diseases.
- The technique supports improved patient management and genetic counseling for affected families.