MODERN DIAGNOSTIC METHODS FOR MUCOPOLYSACCHARIDOSES: FROM BIOCHEMICAL ANALYSIS TO MOLECULAR DIAGNOSTICS
MODERN DIAGNOSTIC METHODS FOR MUCOPOLYSACCHARIDOSES: FROM BIOCHEMICAL ANALYSIS TO MOLECULAR DIAGNOSTICS

Summary/Abstract: Background: Mucopolysaccharidoses (MPS) are a group of rare inherited lysosomal storage disorders caused by a deficiency or absence of specific lysosomal enzymes responsible for degrading glycosaminoglycans (GAGs). The accumulation of GAGs in cells and tissues leads to progressive multi-organ dysfunction, significantly impacting patients’ quality of life and lifespan. Due to the initially asymptomatic presentation and the rarity of the disease, diagnosis is often significantly delayed.Aim of the study: This review aims to summarize and evaluate current and emerging diagnostic methods for MPS, with particular emphasis on their potential to enable early detection and timely therapeutic intervention.Material and methods: A literature review was conducted based on scientific publications from the last two decades. The analysis focused on traditional diagnostic methods – such as urinary GAG analysis, enzymatic assays, and molecular genetic testing – as well as novel screening tools and biomarkers, including tandem mass spectrometry and next-generation sequencing.Results: Traditional methods remain the gold standard for confirming MPS diagnosis but are often preceded by a long diagnostic delay. Recent advances, such as newborn screening protocols using dried blood spot tests and expanded genetic panels, promise much earlier detection of MPS. These newer methods demonstrate higher sensitivity and specificity and, when implemented in screening programs, may significantly shorten the so-called “diagnostic odyssey.”Conclusions: Early and accurate diagnosis of MPS is essential for initiating effective treatments such as enzyme replacement therapy or hematopoietic stem cell transplantation. New diagnostic technologies offer hope for earlier detection and better clinical outcomes and may facilitate access to experimental therapies, including gene therapy. Widespread implementation of these techniques could transform the diagnostic landscape for MPS and improve patient prognosis.

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