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Clinical and biochemical footprints of inherited metabolic diseases. IX. Metabolic ear disease


Bakhos, David; Blasco, Hélène; Galvin, John J; Ferreira, Carlos R; Blau, Nenad (2022). Clinical and biochemical footprints of inherited metabolic diseases. IX. Metabolic ear disease. Molecular Genetics and Metabolism, 137(3):223-229.

Abstract

Damages to the ear are very diverse and can depend on the type of inherited metabolic diseases (IMD). Indeed, IMDs can affect all parts of the auditory system, from the outer ear to the central auditory process. We have identified 219 IMDs associated with various types of ear involvement which we classified into five groups according to the lesion site of the auditory system: congenital external ear abnormalities, acquired external ear abnormalities, middle ear involvement, inner ear or retrocochlear involvement, and unspecified hearing loss. This represents the ninth issue in a series of educational summaries providing a comprehensive and updated list of metabolic differential diagnoses according to system involvement.

Keywords: Conductive hearing loss; Ear; External ear; Hearing loss; Inborn errors of metabolism; Inherited metabolic diseases; Sensorineural hearing loss; Tinnitus.

Abstract

Damages to the ear are very diverse and can depend on the type of inherited metabolic diseases (IMD). Indeed, IMDs can affect all parts of the auditory system, from the outer ear to the central auditory process. We have identified 219 IMDs associated with various types of ear involvement which we classified into five groups according to the lesion site of the auditory system: congenital external ear abnormalities, acquired external ear abnormalities, middle ear involvement, inner ear or retrocochlear involvement, and unspecified hearing loss. This represents the ninth issue in a series of educational summaries providing a comprehensive and updated list of metabolic differential diagnoses according to system involvement.

Keywords: Conductive hearing loss; Ear; External ear; Hearing loss; Inborn errors of metabolism; Inherited metabolic diseases; Sensorineural hearing loss; Tinnitus.

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Additional indexing

Item Type:Journal Article, refereed, further contribution
Communities & Collections:04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
Dewey Decimal Classification:610 Medicine & health
Scopus Subject Areas:Health Sciences > Endocrinology, Diabetes and Metabolism
Life Sciences > Biochemistry
Life Sciences > Molecular Biology
Life Sciences > Genetics
Life Sciences > Endocrinology
Uncontrolled Keywords:Endocrinology, Genetics, Molecular Biology, Biochemistry, Endocrinology, Diabetes and Metabolism
Language:English
Date:1 November 2022
Deposited On:28 Feb 2023 07:59
Last Modified:28 Apr 2024 01:41
Publisher:Elsevier
ISSN:1096-7192
OA Status:Hybrid
Free access at:Publisher DOI. An embargo period may apply.
Publisher DOI:https://doi.org/10.1016/j.ymgme.2022.09.005
PubMed ID:36183456
  • Content: Published Version
  • Licence: Creative Commons: Attribution 4.0 International (CC BY 4.0)