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This review aims to summarize the molecular mechanisms of Fabry disease and the advancements in therapeutic strategies.

February 19, 2026Open Access

An Integrative Review on Fabry Disease: From Its Molecular Mechanism to Modern Therapies

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This review highlights Fabry disease pathogenesis, diagnostic strategies, and evolving treatments, suggesting improved management approaches.

This review aims to summarize the molecular mechanisms of Fabry disease and the advancements in therapeutic strategies.
Conducted an integrative review of literature on Fabry disease
Analyzed diagnostic techniques like enzyme activity assays and molecular genetic testing
Evaluated current and emerging treatment approaches including enzyme replacement and gene therapies
Identified key pathogenic mutations in the GLA gene affecting enzyme function
Described the accumulation of glycosphingolipids leading to organ involvement
Highlighted limitations of current therapies due to immune responses and delivery obstacles

Ms. P. Devika*, Ms. D. Jayashree, Ms. S. Sapna Banu, Mrs. S. Sathiya Priya, Ms. T. Yathika, Ms. A. Mumtaj Begum* (2026) studied this question.

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This review highlights Fabry disease pathogenesis, diagnostic strategies, and evolving treatments, suggesting improved management approaches.