{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T20:57:53Z","timestamp":1791838673925,"version":"4.3.4"},"reference-count":91,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2024,10,29]],"date-time":"2024-10-29T00:00:00Z","timestamp":1730160000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Brain Sciences"],"abstract":"<jats:p>Background: The mucopolysaccharidoses (MPSs) are very rare lysosomal diseases. MPSs belong to inherited diseases; however, newborns are usually asymptomatic. A deficiency of one of the enzymes, which is responsible for glycosaminoglycan (GAG) catabolism, results in the accumulation of this material. GAGs lead to progressive damage to tissues. More than 90% of patients with MPS suffer from otitis media with effusion or recurrent otitis media, craniofacial dysmorphia, obstructive sleep apnea, different types of hearing loss, and progressive upper and lower airway dysfunction. Patients visit otolaryngologists often before the diagnosis of MPS. Thus, the awareness of symptoms of MPS is crucial for otolaryngologists and pediatricians. The earlier the diagnosis is made, the more effective treatment is. Ineffective or delayed treatment leads to premature death. Two principal treatments for MPS are currently available: hematopoietic stem cell transplantation (HSCT) and enzyme replacement therapy (ERT). In recent years, there has been a growing interest in gene therapy as a potential treatment for patients with MPS. Mortality in patients with MPS typically occurs during childhood and early adolescence as a consequence of upper and lower respiratory diseases. Methods: This systematic review is based on papers available in the following scientific databases: MEDLINE (via PubMed), Web of Science, Scopus, and the Cochrane Library. Results: After screening, 72 articles met our inclusion criteria. Conclusions: It is of paramount importance that otolaryngologists are involved in this field. This narrative review examines and synthesizes the otolaryngologic issues encountered in patients with MPS.<\/jats:p>","DOI":"10.3390\/brainsci14111085","type":"journal-article","created":{"date-parts":[[2024,10,29]],"date-time":"2024-10-29T10:45:35Z","timestamp":1730198735000},"page":"1085","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Otorhinolaryngological Problems in Mucopolysaccharidoses: A Review of Common Symptoms in a Rare Disease"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4845-6088","authenticated-orcid":false,"given":"Anna","family":"Wa\u015bniewska-W\u0142odarczyk","sequence":"first","affiliation":[{"name":"Department of Otolaryngology, Polish Mother\u2019s Memorial Hospital Research Institute, 93-338 Lodz, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renata","family":"Pepa\u015b","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, Polish Mother\u2019s Memorial Hospital Research Institute, 93-338 Lodz, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5326-4777","authenticated-orcid":false,"given":"Oskar","family":"Rosiak","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, Polish Mother\u2019s Memorial Hospital Research Institute, 93-338 Lodz, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6202-7506","authenticated-orcid":false,"given":"Wies\u0142aw","family":"Konopka","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, Polish Mother\u2019s Memorial Hospital Research Institute, 93-338 Lodz, Poland"},{"name":"Department of Paediatric Didactics, Medical University of Lodz, 90-419 Lodz, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,10,29]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Costi, S., Caporali, R.F., and Marino, A. 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