ReviewInternational journal of molecular sciences2020
Metabolomics to Improve the Diagnostic Efficiency of Inborn Errors of Metabolism.
Review in International journal of molecular sciences, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 1 of them a synthesis that pooled it.
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Who cites it
32 citing papers in PubMed, 1 synthesis or guideline pooled it, 51 citations in OpenAlex.
- Metabolomic profiling in phenylketonuria: a systematic review of human studies.Metabolomics : Official journal of the Metabolomic Society · 2026Pooled it
- Revolutionizing neonatal health: India's journey from assays to advanced genetics.Journal of applied genetics · 2026Review
- Emerging Quantitative Targeted Metabolomics Approaches for Future Inborn Errors of Metabolism Screening.Diagnostics (Basel, Switzerland) · 2026Review
- Receptor-Mitochondria Crosstalk in the Kynurenine Metabolic Pathway: Integrating Metabolomics and Clinical Mass Spectrometry.Antioxidants (Basel, Switzerland) · 2026Review
- Decoding rare inherited metabolic disorders: advancing precision in screening and diagnosis.Orphanet journal of rare diseases · 2026Review
- Mass Spectrometry-Based Metabolomics in Pediatric Health and Disease.Metabolites · 2026Review
- Integrative bioinformatics analysis identifies APOE as a candidate link between lipid dysregulation and macrophage activation in inborn errors of metabolism.Frontiers in pharmacology · 2026Article
- Untargeted Metabolomic Study for Urinary Characterization of Adult Patients with Phenylketonuria.International journal of molecular sciences · 2025Article
- Inherited metabolic disorders: presentation, clinical types, laboratory diagnosis and genetic markers.Orphanet journal of rare diseases · 2025Review
- Riboflavin Transporter Deficiency Type 2: Expanding the Phenotype of the Lebanese Founder Mutation p.Gly306Arg in theMetabolites · 2025Article
- Qatar's National Expanded Metabolic Newborn Screening Program: Incidence and Outcomes.International journal of neonatal screening · 2025Article
- Integration of multi-omics layers empowers precision diagnosis through unveiling pathogenic mechanisms on maple syrup urine disease.Journal of inherited metabolic disease · 2025Article
- Metabolomics in diabetic nephropathy: Unveiling novel biomarkers for diagnosis (Review).Molecular medicine reports · 2024Review
- Single-cell metabolomics in rare disease: From technology to disease.Intractable & rare diseases research · 2024Review
- Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass Spectrometry.International journal of neonatal screening · 2024Article
- Exploring disease-specific metabolite signatures in hereditary angioedema patients.Frontiers in immunology · 2024Article
- Generalized metabolic flux analysis framework provides mechanism-based predictions of ophthalmic complications in type 2 diabetes patients.Health information science and systems · 2023Article
- Phenylketonuria (PKU) Urinary Metabolomic Phenotype Is Defined by Genotype and Metabolite Imbalance: Results in 51 Early Treated Patients Using Ex VivoMolecules (Basel, Switzerland) · 2023Article
- Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7-year study in eastern coastal areas of China.Molecular genetics & genomic medicine · 2023Article
- Untargeted Metabolomic Analysis of Sjögren-Larsson Syndrome Reveals a Distinctive Pattern of Multiple Disrupted Biochemical Pathways.Metabolites · 2023Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Early diagnosis of inborn errors of metabolism (IEM)-a large group of congenital disorders-is critical, given that many respond well to targeted therapy. Newborn screening programs successfully capture a proportion of patients enabling early recognition and prompt initiation of therapy. For others, the heterogeneity in clinical presentation often confuses diagnosis with more common conditions. In the absence of family history and following clinical suspicion, the laboratory diagnosis typically begins with broad screening tests to circumscribe specialised metabolite and/or enzyme assays to identify the specific IEM. Confirmation of the biochemical diagnosis is usually achieved by identifying pathogenic genetic variants that will also enable cascade testing for family members. Unsurprisingly, this diagnostic trajectory is too often a protracted and lengthy process resulting in delays in diagnosis and, importantly, therapeutic intervention for these rare conditions is also postponed. Implementation of mass spectrometry technologies coupled with the expanding field of metabolomics is changing the landscape of diagnosing IEM as numerous metabolites, as well as enzymes, can now be measured collectively on a single mass spectrometry-based platform. As the biochemical consequences of impaired metabolism continue to be elucidated, the measurement of secondary metabolites common across groups of IEM will facilitate algorithms to further increase the efficiency of diagnosis.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.