Journal
MOLECULAR GENETICS AND METABOLISM
Volume 137, Issue 3, Pages 223-229Publisher
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.ymgme.2022.09.005
Keywords
Ear; Inborn errors of metabolism; Inherited metabolic diseases; Hearing loss; Tinnitus; Sensorineural hearing loss; Conductive hearing loss; External ear
Funding
- Nenad Blau IEMBase Endowment Fund of the MCF, Marin County, CA, USA
- Intramural Research Program of the National Human Genome Research Institute
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Damages to the ear can vary depending on the type of inherited metabolic diseases (IMD). This article provides a comprehensive list of 219 IMDs associated with different types of ear involvement, categorized based on the site of auditory system lesion. It serves as an educational summary for metabolic differential diagnoses.
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 iden-tified 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 abnormal-ities, middle ear involvement, inner ear or retrocochlear involvement, and unspecified hearing loss. This repre-sents the ninth issue in a series of educational summaries providing a comprehensive and updated list of metabolic differential diagnoses according to system involvement. (c) 2022 Elsevier Inc. All rights reserved.
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