Mucopolysaccharidosis Type 4 (Morquio Syndrome): A Case Report from Kashmir Valley

Mucopolysaccharidosis type IVA (MPS IVA), also known as Morquio syndrome, is a rare lysosomal storage disorder caused by a deficiency in the enzyme N-acetylgalactosamine-6-sulfatase (GALNS).It is an autosomal recessive condition characterized by progressive skeletal abnormalities and other systemic complications.This case report discusses a 3-year and 8-month-old boy from the Kashmir Valley diagnosed with Mucopolysaccharidosis type IVA (Morquio syndrome), a rare lysosomal storage disorder due to a deficiency in the enzyme N-acetylgalactosamine-6-sulfatase (GALNS).The patient, presenting with short stature and skeletal deformities, was confirmed to have a homozygous mutation in the GALNS gene.Radiographic findings were consistent with MPS IVA, and the patient was planned for enzyme replacement therapy with Elosulfase Alfa.This case underscores the importance of early diagnosis and genetic testing in managing Morquio syndrome, highlighting the potential benefits of targeted enzyme replacement therapy in improving patient outcomes.