Biomarkers in Metabolic Diseases, 2nd Edition
A special issue of Biomolecules (ISSN 2218-273X). This special issue belongs to the section "Molecular Biomarkers".
Deadline for manuscript submissions: closed (28 February 2026) | Viewed by 4730
Special Issue Editors
Interests: inborn errors of metabolism (IEM); lysosomal storage disorders (LSD)
Special Issues, Collections and Topics in MDPI journals
2. Department of Pediatrics, Center of Postgraduate Medical Education, Warsaw, Poland
Interests: inborn errors of metabolism (IEM); lysosomal storage diseases (LSDs); congenital disorders of glycosylation (CDG); liver monogenic diseases; next-generation sequencing (NGS); autism spectrum disorders
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Biomarkers are broadly defined as biological indicators, the study of which allows for the qualitative and quantitative assessment of various characteristics and biological states. In congenital metabolic diseases, biomarkers represent a useful biochemical tool for precise and relatively straightforward diagnosis to determine the probability of disease occurrence and its progression, as well as assess the efficacy of therapy. Biomarkers can be measured using a variety of techniques in biochemistry, genetics, proteomics, and imaging. In this way, they are an invaluable and dynamically developing source of biomedical knowledge. Of particular importance are the quantitative biomarkers that correlate with clinical manifestations enabling the determination of risk complications or survival (surrogate biomarkers). Surrogate biomarkers also play a key role in the drug licensing process and in monitoring the effects of therapy on rare diseases, i.e., genetically determined metabolic diseases.
The small number of patients and the clinical heterogeneity of the underlying pathology require reliable, adequate, and objective parameters, which are particularly important in progressive diseases such as metabolic disorders. Pure clinical studies are outside the scopes of the Special Issue. The scope is mainly focused on basic science, in vitro, in vivo, and preclinical research, while purely clinical studies are usually not processed.
Our Special Issue aims to share new knowledge in the use and study of biomarkers in diagnosing and monitoring congenital metabolic diseases.
Prof. Dr. Anna Tylki-Szymańska
Dr. Patryk Lipiński
Guest Editors
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Keywords
- metabolic disorders
- inborn errors of metabolism
- surrogate biomarkers
- biochemical markers
- diagnostic markers
- newborn screening
- molecular analyses
- metabolomics
- disease progression
- treatment efficacy
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Related Special Issue
- Biomarkers in Metabolic Diseases in Biomolecules (3 articles)
