"Comprehensive Clinical Evaluation And Management Of Congenital Mucopolysacchariodosos type IVA: A Case Report"

Author(s)	Ms. Roshini S, Mr. Vimal Rajan G, Ms. Desica D, Mr. Surya Kanth K, Mr. Shankar Nithi K
Country	India
Abstract	This report outlines a brief clinical description of a 2-year-old boy diagnosed with Morquio syndrome (Mucopolysaccharidosis type IVA), a rare autosomal recessive lysosomal storage disorder. The disease results from a deficiency of the N-acetyl-galactosamine-6-sulfatase enzyme, causing the buildup of glycosaminoglycans. This accumulation leads to congenital malformations, disproportionate short stature, significant skeletal deformities, and multisystem involvement, while cognitive function generally remains intact. The case underscores the significance of early recognition, treatment options such as enzyme replacement therapy with Elosulfase alfa, and the necessity of comprehensive multidisciplinary management, genetic counseling, and regular follow-up. It further discusses diagnostic difficulties and explores emerging treatment strategies like gene therapy for managing these progressive hereditary metabolic conditions.
Keywords	Mucopolysccharidosis type IVA, Enzyme replacement therapy, Morquio syndrome, Genetic mutation
Field	Medical / Pharmacy
Published In	Volume 7, Issue 6, November-December 2025
Published On	2025-11-22
DOI	https://doi.org/10.36948/ijfmr.2025.v07i06.61149
Short DOI	https://doi.org/

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