Mucopolysaccharidoses: From Molecular Defects to Therapeutic Strategies
A Special Issue of Life (ISSN 2075-1729) belonging to the section "Medical Research".
Deadline for manuscript submissions: 20 November 2026 | Viewed by 405
Editor
Special Issue Information
Dear Colleagues,
Mucopolysaccharidoses (MPSs) comprise a heterogeneous group of rare lysosomal storage disorders, each caused by inherited deficiencies in specific enzymes required for the stepwise degradation of glycosaminoglycans (GAGs). Impaired enzymatic activity results in the progressive intralysosomal accumulation of undegraded or partially degraded GAGs—primarily dermatan sulfate, heparan sulfate, and keratan sulfate—leading to multisystemic cellular damage, chronic inflammation, and progressive organ dysfunction. To date, 13 distinct MPS types and subtypes have been characterized, classified according to the deficient enzyme and the predominant GAG species stored, with clinical phenotypes ranging from severe neonatal-onset forms to attenuated adult variants.
Although enzyme replacement therapy and hematopoietic stem cell transplantation have improved outcomes for several MPS types, significant challenges remain, including limited efficacy in skeletal and neurological manifestations, immunogenicity, high treatment costs, and the lack of disease‑modifying options for certain subtypes.
This Special Issue is dedicated to advancing our understanding of MPS across the entire translational spectrum. We invite original research and comprehensive reviews that address the following topics: novel genetic and biochemical biomarkers for early diagnosis; elucidation of secondary pathogenic cascades (e.g., autophagy impairment, neuroinflammation, and skeletal dysplasia); development of next‑generation therapies, including substrate reduction, pharmacological chaperones, gene editing, and blood–brain barrier‑penetrant biologics; real‑world evidence on long‑term outcomes of current treatments; and innovative patient‑centered care models.
By bridging fundamental science with clinical application, this collection aims to catalyze progress toward more effective, accessible, and curative strategies for all patients affected by MPS. We look forward to your valuable contributions.
Dr. Zuzanna Cyske
Guest Editor
Manuscript Submission Information
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Publisher's Notice
Following discussions between the Life Editorial Office and the Guest Editor, the Special Issue description has been revised. This change has been approved by the journal Editorial Board, and the Special Issue website has been updated accordingly on 12 August 2026. The Special Issue will continue to be handled by the Guest Editor in accordance with MDPI’s Special Issue and editorial policies.
Keywords
- mucopolysaccharidosis
- mucopolysaccharidosis-plus syndrome
- MPSPS
- VPS33A
- therapy
- patomechanism
- diagnostic
- patients’ care
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