ArticleInternational journal of molecular sciences2023
Untargeted Metabolomics Identifies Biomarkers for MCADD Neonates in Dried Blood Spots.
Article in International journal of molecular sciences, 2023. 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, 14 citations in OpenAlex.
- Untargeted metabolomics reveals distinct metabolic profiles in MUT-type methylmalonic acidemia.Molecular and cellular pediatrics · 2026Article
- An LC-MS untargeted metabolomic comparison between three blood microsampling devices, whole blood, and plasma.Metabolomics : Official journal of the Metabolomic Society · 2026Article
- Dried blood spots capture a wide range of metabolic pathways and biological changes associated with exercise.Metabolomics : Official journal of the Metabolomic Society · 2025Article
- Lipidomic Profiling of Red Blood Cells in the Mitochondrial Fatty Acid β-oxidation Disorder MCADD Reveals Phospholipid and Sphingolipid Dysregulation.Journal of proteome research · 2025Article
- The Multi-Omic Approach to Newborn Screening: Opportunities and Challenges.International journal of neonatal screening · 2024Review
- Targeted and untargeted metabolomics and lipidomics in dried blood microsampling: Recent applications and perspectives.Analytical science advances · 2024Review
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is the most common inherited mitochondrial metabolic disease of fatty acid β-oxidation, especially in newborns. MCADD is clinically diagnosed using Newborn Bloodspot Screening (NBS) and genetic testing. Still, these methods have limitations, such as false negatives or positives in NBS and the variants of uncertain significance in genetic testing. Thus, complementary diagnostic approaches for MCADD are needed. Recently, untargeted metabolomics has been proposed as a diagnostic approach for inherited metabolic diseases (IMDs) due to its ability to detect a wide range of metabolic alterations. We performed an untargeted metabolic profiling of dried blood spots (DBS) from MCADD newborns (
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Registered trials
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