Biomarkers in Metabolic Diseases

Dear Colleagues,

Biomarkers are broadly defined as biological indicators, the study of which allows for a qualitative and quantitative assessment of various characteristics and biological states. In congenital metabolic diseases, biomarkers represent a useful biochemical tool for a precise and relatively straightforward diagnosis for determining the probability of disease occurrence and its progression as well as assessing 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 for rare diseases, i.e., genetically determined metabolic diseases.

The small number of patients and the clinical heterogeneity of the underlying pathology requires reliable, adequate, and objective parameters, which are particularly important in progressive diseases such as metabolic disorders.

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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