Abstract
Abstract Mucopolysaccharidosis (MPS) is a group of rare lysosomal storage disorders caused by a lack of specific lysosomal enzymes, resulting in the accumulation of glycosaminoglycans in various tissues and organs. Ear, nose, and throat disorders are frequently present as early and common symptoms in MPS patients, particularly in types I, II, and VI. These conditions include recurrent otitis media with effusion, hearing loss, chronic rhinosinusitis, nasal obstruction, adenotonsillar hypertrophy, and upper airway obstruction, which results in obstructive sleep apnea syndrome. Pediatric otolaryngologists are critical in enabling early diagnosis, initiating multidisciplinary treatment, and providing optimal perioperative care to MPS patients. This review examines the pediatric otolaryngologists’ involvement and role in managing MPS, respiratory complications that come with it, potential treatment options, such as novel surgical techniques and enzyme replacement therapy, and the significance of hearing impairment as a critical diagnostic indicator for MPS. Furthermore, it emphasizes the importance of a smooth transition from pediatric to adult care for MPS patients.
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