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Rare diseases collectively represent a major public health concern, affecting millions worldwide. Their low prevalence, lack of awareness, and overlapping clinical features often lead to misdiagnosis and diagnostic delays. Among these, mucopolysaccharidoses (MPS), subgroup of lysosomal storage disorders caused by enzyme deficiencies in glycosaminoglycan (GAG) degradation. Early MPS diagnosis is critical, particularly in infants, as disease progression results in irreversible systemic damage, thus reducing quality of life. Detection of elevated urinary GAGs serves as a biochemical marker for initial screening of MPS. However, existing diagnostic approaches though effective for GAG detection are limited by low specificity, complexity, lack of point-of-care (POC) applicability, and inability to provide a comprehensive GAG profile. This review emphasizes the pressing need for accessible, multiplexed and POC diagnostic strategies. Emerging approaches such as sensor arrays, nanoprobe, and molecular imprinted polymers are discussed as promising alternatives due to their enhanced sensitivity and selectivity for GAG detection. However, these technologies remain at an early stage of development. The key challenges limiting their clinical implementation, along with strategies for integrating these technologies into the screening workflow through point-of-care testing (POCT) devices, are also discussed. The review provides an overview of existing diagnostic strategies, identifies existing gaps, and outlines future direction for developing an efficient, low-cost, and rapid platforms for early MPS and other rare disease diagnostics, with the aim to overcome existing diagnostic barriers and improve patient outcomes.
Pathak et al. (Sat,) studied this question.