ArticleInternational journal of molecular sciences2024
Exploratory Untargeted Metabolomics of Dried Blood Spot Samples from Newborns with Maple Syrup Urine Disease.
Article in International journal of molecular sciences, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed.
- Pushing the Boundaries of Biomarker Discovery in Phenylketonuria: Metabolomic Profiling Reveals Novel Biomarkers and Their Associations with Phenylalanine.Molecules (Basel, Switzerland) · 2026Article
- Mass Spectrometry-Based Metabolomics in Pediatric Health and Disease.Metabolites · 2026Review
- Discovery of newborn Wilson disease biomarkers via integrated next-generation sequencing and untargeted metabolomics.Orphanet journal of rare diseases · 2025Article
- Insights from Metabolomics Profiling of MSUD in Pediatrics Toward Disease Progression.Metabolites · 2025Article
- Metabolic profile changes in patients with rheumatoid arthritis detected using mass spectrometry.Scientific reports · 2025Article
- The MDA-MB-231 Breast Cancer Cell Secretomes Modify Metabolomes ofInternational journal of molecular sciences · 2025Article
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Authors and funding
9 authors.
Funding
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Abstract
Currently, tandem mass spectrometry-based newborn screening (NBS), which examines targeted biomarkers, is the first approach used for the early detection of maple syrup urine disease (MSUD) in newborns, followed by confirmatory genetic mutation tests. However, these diagnostic approaches have limitations, demanding the development of additional tools for the diagnosis/screening of MUSD. Recently, untargeted metabolomics has been used to explore metabolic profiling and discover the potential biomarkers/pathways of inherited metabolic diseases. Thus, we aimed to discover a distinctive metabolic profile and biomarkers/pathways for MSUD newborns using untargeted metabolomics. Herein, untargeted metabolomics was used to analyze dried blood spot (DBS) samples from 22 MSUD and 22 healthy control newborns. Our data identified 210 altered endogenous metabolites in MSUD newborns and new potential MSUD biomarkers, particularly L-alloisoleucine, methionine, and lysoPI. In addition, the most impacted pathways in MSUD newborns were the ascorbate and aldarate pathways and pentose and glucuronate interconversions, suggesting that oxidative and detoxification events may occur in early life. Our approach leads to the identification of new potential biomarkers/pathways that could be used for the early diagnosis/screening of MSUD newborns but require further validation studies. Our untargeted metabolomics findings have undoubtedly added new insights to our understanding of the pathogenicity of MSUD, which helps us select the appropriate early treatments for better health outcomes.
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