Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2021 Jul;25(3):e386-e391.
doi: 10.1055/s-0040-1712107. Epub 2020 Sep 24.

Hearing Loss in Mucopolysaccharidosis

Cibele Gomes Bicalho  1 , Emília Katiane Embiruçu de Araújo Leão  2   3 , Álvaro Muiños de Andrade  1 , Angelina Xavier Acosta  2   4
Affiliations

Hearing Loss in Mucopolysaccharidosis

Cibele Gomes Bicalho et al. Int Arch Otorhinolaryngol. 2021 Jul.

Abstract

Introduction Mucopolysaccharidosis (MPS) is a set of rare diseases caused by deficiency of lysosomal enzymes that lead to the accumulation of glycosaminoglycans (GAG) in tissues and organs, which, in turn, is responsible for the multisystemic clinical, chronic, and progressive symptoms. Objective To describe the profile of the otorhinolaryngological clinical examination and audiology tests of patients with MPS disease. Methods The present study is a case series. The evaluation was performed, initially, in 24 patients with MPS types I, II, IIIA, IV and VI. Results The most common hearing complaint was hearing loss, which was confirmed by audiology tests in almost 100% of the patients, most of whom presented conductive hearing loss. Conclusions It is important to evaluate the complaints, physical examination, and audiology tests in patients with MPS. The otorhinolaryngologistshould be part of the group of professionals that follows these patients to better monitor their hearing and provide early hearing rehabilitation.

Keywords: hearing loss; inborn errors of metabolism; metabolism; mucopolysaccharidosis; otorhinolaryngology.

PubMed Disclaimer

Conflict of interest statement

Conflict of Interests The authors have no conflict of interests to declare.

References

    1. Muenzer J. Overview of the mucopolysaccharidoses. Rheumatology (Oxford) 2011;50 05:v4–v12. - PubMed
    1. Wraith J E. The mucopolysaccharidoses: a clinical review and guide to management. Arch Dis Child. 1995;72(03):263–267. - PMC - PubMed
    1. Baehner F, Schmiedeskamp C, Krummenauer F. Cumulative incidence rates of the mucopolysaccharidoses in Germany. J Inherit Metab Dis. 2005;28(06):1011–1017. - PubMed
    1. Ternes D, Fernandes R, Mps R.Mucopolissacaridoses I, II e VI: Estudo epidemiológico comparativo entre as Regiões Nordeste (NE), Sudeste (SE) e Sul (S) do BrasilXVI Encontro de Geneticistas do Rio Grande do Sul, Porto Alegre. 2008. Accessed 26/11/2014
    1. Wold S M, Derkay C S, Darrow D H, Proud V. Role of the pediatric otolaryngologist in diagnosis and management of children with mucopolysaccharidoses. Int J Pediatr Otorhinolaryngol. 2010;74(01):27–31. - PubMed