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

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.

SUBMITTER: Bakhos D

PROVIDER: S-EPMC10551722 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature

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

Bakhos David D Blasco Hélène H Galvin John J JJ Ferreira Carlos R CR Blau Nenad N

Molecular genetics and metabolism 20220923 3

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 retrococ ...[more]

PMID: 36183456

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