The Future Perspective on Screening and Diagnosis of Inborn Errors of Metabolism
A special issue of Metabolites (ISSN 2218-1989).
Deadline for manuscript submissions: 30 November 2025 | Viewed by 92
Special Issue Editors
Interests: inborn errors of metabolism; cell biology; newborn screening
Interests: inborn errors of metabolism; IEM diagnostic approach; omics sciences for IEM; IEM biomarkers search; new diagnostic techniques
Special Issue Information
Dear Colleagues,
This Special Issue, "The Future Perspective on Screening and Diagnosis of Inborn Errors of Metabolism", provides a comprehensive examination of the evolving landscape of IEM diagnostics. It explores the current state-of-the-art and anticipates future directions in the detection, screening, and diagnosis of these complex disorders. The Special Issue offers a detailed review of novel methodologies, including advanced genetic screening techniques, the identification and validation of novel biomarkers, and the development of sophisticated diagnostic platforms. A key focus is the integration of these advancements into clinical practice, with particular attention on the principles of precision medicine and the implementation of early intervention strategies. The scope encompasses a broad range of topics, including, but not limited to, the following: next-generation sequencing and its applications in IEM diagnostics; the role of “omics” sciences in identifying molecular signatures; the integration of artificial intelligence and machine learning for data analysis and diagnostic support; and the application of advanced data analytics for improving diagnostic accuracy. Furthermore, the Special Issue addresses the development and validation of diagnostic algorithms, the optimization of newborn screening programs, and the adaptation of emerging technologies. The overarching goal is to stimulate research, inform clinical practice, and facilitate the translation of scientific discoveries into improved patient outcomes on a global scale.
Dr. Luiz Carlos Santana-Da-Silva
Dr. Olga Yaneth Echeverri-Peña
Dr. Ángela J. Espejo-Mojica
Guest Editors
Manuscript Submission Information
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Keywords
- inborn errors of metabolism (IEM)
- genetic disorders
- diagnostics
- biomarkers
- omics sciences
- imaging techniques (MRS, PET)
- molecular techniques (NGS, gene editing)
- personalized medi-cine
- early detection
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