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Updated: Jun 13, 2026
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One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
Published on: June 25, 2010
Emerging Quantitative Targeted Metabolomics Approaches for Future Inborn Errors of Metabolism Screening.
Shayma A Osman1, Ahmed Malki1, Haya Al-Sulaiti1,2
1Biomedical Sciences Department, College of Health Sciences, QU Health, Qatar University, Doha P.O. Box 2713, Qatar.
Diagnostics (Basel, Switzerland)
|June 12, 2026
Summary
Quantitative targeted metabolomics (QTM) aids in diagnosing inborn errors of metabolism (IEMs). This review highlights QTM
Area of Science:
- Biochemistry
- Genetics
- Metabolomics
Background:
- Inborn errors of metabolism (IEMs) are genetic disorders stemming from enzyme defects.
- These defects disrupt metabolic pathways, necessitating early and accurate diagnosis for effective intervention.
- Current diagnostic approaches require enhancement for complex IEM cases with overlapping profiles.
Purpose of the Study:
- To review diagnostic techniques for IEMs.
- To outline the principles and benefits of Quantitative Targeted Metabolomics (QTM).
- To evaluate QTM's role in advancing IEM diagnosis and precision medicine.
Main Methods:
- Review of existing literature on IEM diagnostics.
- Explanation of Quantitative Targeted Metabolomics (QTM) principles.
- Analysis of QTM's application in metabolic phenotyping.
Main Results:
- QTM quantifies specific metabolites, generating biochemical phenotypes for IEM diagnosis.
- Expanded QTM offers multi-analyte profiling for comprehensive metabolic characterization.
- QTM shows promise in differentiating IEMs with similar biochemical presentations.
Conclusions:
- Timely diagnosis is critical for managing IEMs.
- QTM is a valuable tool for deep metabolic phenotyping in IEMs.
- Further development of QTM supports precision medicine approaches for IEMs.
