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

被引：5

作者：

Bakhos, David ^{[1
,2
,3
]}

Blasco, Helene ^{[2
,4
]}

Galvin III, John J. ^{[1
,2
,3
]}

Ferreira, Carlos R. ^{[5
]}

Blau, Nenad ^{[6
,7
]}

机构：

[1] CHRU Tours, Serv ORL & Chirurg Cerv Faciale, Blvd Tonnelle, F-37044 Tours, France

[2] Univ Tours, France INSERM, U1253, Tours, France

[3] House Inst Fdn, Los Angeles, CA USA

[4] CHRU Tours, Serv Biochim, Blvd Tonnelle, F-37044 Tours, France

[5] NHGRI, NIH, Bethesda, MD USA

[6] Univ Childrens Hosp, Div Metab, Zurich, Switzerland

[7] Univ Childrens Hosp Zurich, Div Metab, Steinwiesstr 75, CH-8032 Zurich, Switzerland

来源：

MOLECULAR GENETICS AND METABOLISM | 2022年 / 137卷 / 03期

关键词：

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

D O I：

10.1016/j.ymgme.2022.09.005

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：223 / 229

页数：7

共 5 条

[1] Clinical and biochemical footprints of inherited metabolic diseases. IV. Metabolic cardiovascular disease [J].

Ferreira, Carlos R. ;

Blau, Nenad .

MOLECULAR GENETICS AND METABOLISM, 2021, 132 (02) :112-118

[2] Clinical and biochemical footprints of inherited metabolic diseases. II. Metabolic liver diseases [J].

Ferreira, Carlos R. ;

Cassiman, David ;

Blau, Nenad .

MOLECULAR GENETICS AND METABOLISM, 2019, 127 (02) :117-121

[3] Clinical and biochemical footprints of inherited metabolic diseases. I. Movement disorders [J].

Ferreira, Carlos R. ;

Hoffmann, Georg F. ;

Blau, Nenad .

MOLECULAR GENETICS AND METABOLISM, 2019, 127 (01) :28-30

[4] Clinical and biochemical footprints of inherited metabolic disease. V. Cerebral palsy phenotypes [J].

Horvath, Gabriella A. ;

Blau, Nenad ;

Ferreira, Carlos R. .

MOLECULAR GENETICS AND METABOLISM, 2022, 137 (04) :445-448

[5] Clinical and biochemical footprints of inherited metabolic diseases. III. Psychiatric presentations [J].

Horvath, Gabriella A. ;

Stowe, Robert M. ;

Ferreira, Carlos R. ;

Blau, Nenad .

MOLECULAR GENETICS AND METABOLISM, 2020, 130 (01) :1-6

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