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Sialic acid-Retaled disorders: Advances in pathophysiology, diagnostic challenges, and differentiating mimics
1Cadi Ayyad University, UCA, Faculty of Medicine and Pharmacy, Team for Childhood, Health and Development, Metabolic platform, Biochemistry Laboratory, B.P. 7010, Marrakesh, Morocco.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|September 19, 2025
Summary
Sialic acid-related disorders (SARD) are complex genetic diseases affecting metabolism and transport. This review details their diagnosis and emerging therapies for better patient outcomes.
Area of Science:
- Biochemistry
- Genetics
- Neuroscience
Background:
- Sialic acid-related disorders (SARD) are a diverse group of lysosomal storage diseases.
- Defects in sialic acid metabolism and transport cause SARD, leading to varied clinical symptoms from developmental delays to severe neurodegeneration.
- Diagnostic challenges arise due to overlapping symptoms with other metabolic and neurological conditions.
Purpose of the Study:
- To synthesize current knowledge on sialic acid biology and the genetic/enzymatic defects in SARD.
- To emphasize integrative diagnostic strategies for accurate differentiation.
- To highlight emerging therapeutic approaches and propose a diagnostic algorithm.
Main Methods:
- Literature review synthesizing current knowledge on SARD.
- Delineation of enzymatic and genetic defects in free and bound sialic acid storage diseases.
- Emphasis on integrative diagnostic strategies: biochemical assays, genetic testing, and advanced imaging.
Main Results:
- Comprehensive overview of sialic acid biology and SARD pathophysiology.
- Identification of key genetic and enzymatic defects.
- Integration of diagnostic methods for precise differentiation from similar conditions.
Conclusions:
- Enhanced understanding of SARD pathophysiology and improved diagnostic accuracy are crucial.
- Structured diagnostic algorithms and emerging therapies promise earlier intervention and better patient outcomes.
- Advancement in targeted therapeutic modalities for SARD is a key focus.
