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: 30 June 2025 | Viewed by 1931

Special Issue Editors


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Guest Editor
Department of Pediatrics, Nutrition and Metabolic Diseases, The Children’s Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland
Interests: inborn errors of metabolism (IEM); lysosomal storage disorders (LSD)
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Guest Editor
Institute of Clinical Sciences, Maria Skłodowska-Curie Medical Academy, Warsaw, Poland
Interests: inborn errors of metabolism (IEM); lysosomal storage disorders (LSDs); congenital disorders of glycosylation (CDG); liver monogenic diseases; next-generation sequencing (NGS)
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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Published Papers (1 paper)

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Research

10 pages, 1519 KiB  
Communication
Long- and Short-Term Glucosphingosine (lyso-Gb1) Dynamics in Gaucher Patients Undergoing Enzyme Replacement Therapy
by Pawel Dubiela, Paulina Szymanska-Rozek, Piotr Hasinski, Patryk Lipinski, Grazina Kleinotiene, Dorota Giersz and Anna Tylki-Szymanska
Biomolecules 2024, 14(7), 842; https://doi.org/10.3390/biom14070842 - 12 Jul 2024
Cited by 2 | Viewed by 1564
Abstract
Background: Gaucher disease (GD) is a lysosomal storage disorder caused by mutations in the GBA1 gene, leading to β-glucocerebrosidase deficiency and glucosylceramide accumulation. Methods: We analyzed short- and long-term dynamics of lyso-glucosylceramide (lyso-Gb1) in a large cohort of GD patients undergoing [...] Read more.
Background: Gaucher disease (GD) is a lysosomal storage disorder caused by mutations in the GBA1 gene, leading to β-glucocerebrosidase deficiency and glucosylceramide accumulation. Methods: We analyzed short- and long-term dynamics of lyso-glucosylceramide (lyso-Gb1) in a large cohort of GD patients undergoing enzyme replacement therapy (ERT). Results: Eight-years analysis of lyso-Gb1 revealed statistically insignificant variability in the biomarker across the years and relatively high individual variability in patients’ results. GD type 1 (GD1) patients exhibited higher variability compared to GD type 3 (GD3) patients (coefficients of variation: 34% and 23%, respectively; p-value = 0.0003). We also investigated the short-term response of the biomarker to enzyme replacement therapy (ERT), measuring lyso-Gb1 right before and 30 min after treatment administration. We tested 20 GD patients (16 GD1, 4 GD3) and observed a rapid and significant reduction in lyso-Gb1 levels (average decrease of 17%; p-value < 0.0001). This immediate response reaffirms the efficacy of ERT in reducing substrate accumulation in GD patients but, on the other hand, suggests the biomarker’s instability between the infusions. Conclusions: These findings underscore lyso-Gb1’s potential as a reliable biomarker for monitoring efficacy of treatment. However, individual variability and dry blood spot (DBS) testing limitations urge a further refinement in clinical application. Our study contributes valuable insights into GD patient management, emphasizing the evolving role of biomarkers in personalized medicine. Full article
(This article belongs to the Special Issue Biomarkers in Metabolic Diseases, 2nd Edition)
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