The Morquio Syndrome in Colombia from the molecule to the clinic
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Abstract
Mucopolysaccharidosis type IV-A (MPS IV-A) or Morquio syndrome is an autosomal recessive lysosomal storage disease caused by pathogenic variants of the GALNS gene (16q24.3) responsible for encoding the lysosomal enzyme N-acetylgalactosamine-6-sulfatase (GALNS), a catalyst for glycosaminoglycans (GAGs) such as keratan sulfate and chondroitin-6-sulfate. A pathogenic variant causes a deficiency of the enzymatic action of GALNS, generating the accumulation of GAGs within the lysosomes and causing loss of functionality and cell dysplasia. This disease mainly affects the musculoskeletal system and supporting tissues, causing multiple clinical manifestations that evolve progressively, increasingly limiting daily activities and affecting the quality of life of people who have it and that of their families, also leading to life-threatening complications. Given the heterogeneity of clinical manifestations of patients with Morquio Syndrome, a multidisciplinary team is required for its management and thus achieve the therapeutic objectives in each case. In Colombia, as in many parts of the world, there is a lack of knowledge regarding the diagnosis and management of MPS IV-A, added to the difficulties in the country's health system that prevent the satisfactory development of this objective. For this reason, it becomes pertinent to carry out a review of the current scientific literature on the subject, where a description of the pathology is made from its molecular bases to its clinical manifestation, proposing the predictive, diagnostic tools and current treatments available for Colombia and the world.
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