ArticleJournal of inherited metabolic disease2018
Fast and accurate quantitative organic acid analysis with LC-QTOF/MS facilitates screening of patients for inborn errors of metabolism.
Article in Journal of inherited metabolic disease, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 48 citations in OpenAlex.
- Pathogenic NLRP3 mutants form constitutively active inflammasomes resulting in immune-metabolic limitation of IL-1β production.Nature communications · 2024Trial
- Glucocorticoids affect metabolic but not muscle microvascular insulin sensitivity following high versus low salt intake.JCI insight · 2020Trial
- Evaluation of a Targeted LC-MS/MS Assay for Clinical Quantification of Urinary Organic Acids.Journal of mass spectrometry : JMS · 2026Article
- Beneficial impacts of postbiotic components -- Crosstalk between gut and organs.Current research in food science · 2026Review
- Sodium azide (NaNCritical care (London, England) · 2025Article
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- Discriminative Metabolomics Analysis and Cytotoxic Evaluation of Flowers, Leaves, and Roots Extracts ofMetabolites · 2023Article
- Potential Biomarkers of Mitochondrial Dysfunction Associated with COVID-19 Infection.Advances in experimental medicine and biology · 2023Article
- Application of metabolite set enrichment analysis on untargeted metabolomics data prioritises relevant pathways and detects novel biomarkers for inherited metabolic disorders.Journal of inherited metabolic disease · 2022Article
- Probiotics counteract hepatic steatosis caused by ketogenic diet and upregulate AMPK signaling in a model of infantile epilepsy.EBioMedicine · 2022Article
- Targeted urine metabolomics with a graphical reporting tool for rapid diagnosis of inborn errors of metabolism.Journal of inherited metabolic disease · 2021Article
- Comparison of Untargeted Metabolomic Profiling vs Traditional Metabolic Screening to Identify Inborn Errors of Metabolism.JAMA network open · 2021Article
- Analysis of 2-methylcitric acid, methylmalonic acid, and total homocysteine in dried blood spots by LC-MS/MS for application in the newborn screening laboratory: A dual derivatization approach.Journal of mass spectrometry and advances in the clinical lab · 2021Article
- Using Out-of-Batch Reference Populations to Improve Untargeted Metabolomics for Screening Inborn Errors of Metabolism.Metabolites · 2020Article
- A newborn screening approach to diagnose 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.JIMD reports · 2020Article
- Article
- Untargeted Metabolomics-Based Screening Method for Inborn Errors of Metabolism using Semi-Automatic Sample Preparation with an UHPLC- Orbitrap-MS Platform.Metabolites · 2019Article
- Review
- Extended diagnosis of purine and pyrimidine disorders from urine: LC MS/MS assay development and clinical validation.PloS one · 2019Article
- MS-based lipidomics of human blood plasma: a community-initiated position paper to develop accepted guidelines.Journal of lipid research · 2018Article
Corrections and comments
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Authors and funding
9 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Since organic acid analysis in urine with gaschromatography-mass spectrometry (GC-MS) is a time-consuming technique, we developed a new liquid chromatography-quadrupole time-of-flight mass spectrometry (LC-QTOF/MS) method to replace the classical analysis for diagnosis of inborn errors of metabolism (IEM). Sample preparation is simple and experimental time short. Targeted mass extraction and automatic calculation of z-scores generated profiles characteristic for the IEMs in our panel consisting of 71 biomarkers for defects in amino acids, neurotransmitters, fatty acids, purine, and pyrimidine metabolism as well as other disorders. In addition, four medication-related metabolites were included in the panel. The method was validated to meet Dutch NEN-EN-ISO 15189 standards. Cross validation of 24 organic acids from 28 urine samples of the ERNDIM scheme showed superiority of the UPLC-QTOF/MS method over the GC-MS method. We applied our method to 99 patient urine samples with 32 different IEMs, and 88 control samples. All IEMs were unambiguously established/diagnosed using this new QTOF method by evaluation of the panel of 71 biomarkers. In conclusion, we present a LC-QTOF/MS method for fast and accurate quantitative organic acid analysis which facilitates screening of patients for IEMs. Extension of the panel of metabolites is easy which makes this application a promising technique in metabolic diagnostics/laboratories.
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