Hearing loss in inherited metabolic disorders: A systematic review

Trinh, Thuy-Trân; Blasco, Hélène; Maillot, F.; Bakhos, D.

doi:10.1016/j.metabol.2021.154841

Cited by 4 publications

(1 citation statement)

References 124 publications

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“… 24 In several inborn errors of metabolism, sensorineural hearing loss could be present simultaneously with basal ganglia impairment, but a clear pathophysiologic link is missing. 25 However, the prevalence of sensorineural hearing loss was found to be significantly higher in patients with glutaric aciduria type 1 treated in intensive care units for metabolic crises. 26 One of the hallmarks of glutaric aciduria type 1 is the presence of abnormally high signal in globi pallidi detected by MRI.…”

Section: Discussionmentioning

confidence: 96%

Sensorineural Hearing Loss in a Child with Succinic Semialdehyde Dehydrogenase Deficiency

Parezanović,

Ilić,

Ostojić

et al. 2023

Balkan Journal of Medical Genetics

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Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare autosomal-recessive disorder of gamma-aminobutyric acid (GABA) metabolism, resulting in accumulation of GABA and gamma-hydroxybutyric acid (GHB) in physiological fluids. Approximately 450 patients have been diagnosed worldwide with this inherited neurotransmitter disorder. We report on a five-year-old male patient, homozygous for the pathogenic variant (NM_170740:c.1265G>A) in ALDH5A1 presenting with an unexpected association of typical SSADH deficiency manifestations with bilateral sensorineural hearing loss (SNHL). Brainstem evoked response audiometry (BERA) testing showed mid-frequency sensorineural hearing damage that suggested a hereditary component to SNHL. Whole exome sequencing (WES) failed to discern other genetic causes of deafness. Several variants of uncertain significance (VUS) detected in genes known for their role in hearing physiology could not be verified as the cause for the SNHL. It is known that central auditory processing depends on a delicate balance between excitatory and inhibitory neurotransmission, and GABA is known to play a significant role in this process. Additionally, excessive concentrations of accumulated GABA and GBH are known to cause a down-regulation of GABA receptors, which could have an adverse influence on hearing function. However, these mechanisms are very speculative in context of SNHL in a patient with inherited disorder of GABA metabolism. Injury of the globi pallidi, one of hallmarks of SSADH deficiency, could also be a contributory factor to SNHL, as was suspected in some other inborn errors in metabolism. We hope that this case will contribute to the understanding of phenotypic complexity of SSADH deficiency.

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Section: Discussionmentioning

confidence: 96%

Sensorineural Hearing Loss in a Child with Succinic Semialdehyde Dehydrogenase Deficiency

Parezanović,

Ilić,

Ostojić

et al. 2023

Balkan Journal of Medical Genetics

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New Quadratic Discriminant Analysis Algorithms for Correlated Audiometric Data

Guo,

Zucker,

Vaden

et al. 2024

Statistics in Medicine

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Paired organs like eyes, ears, and lungs in humans exhibit similarities, and data from these organs often display remarkable correlations. Accounting for these correlations could enhance classification models used in predicting disease phenotypes. To our knowledge, there is limited, if any, literature addressing this topic, and existing methods do not exploit such correlations. For example, the conventional approach treats each ear as an independent observation when predicting audiometric phenotypes and is agnostic about the correlation of data from the two ears of the same person. This approach may lead to information loss and reduce the model performance. In response to this gap, particularly in the context of audiometric phenotype prediction, this paper proposes new quadratic discriminant analysis (QDA) algorithms that appropriately deal with the dependence between ears. We propose two‐stage analysis strategies: (1) conducting data transformations to reduce data dimensionality before applying QDA; and (2) developing new QDA algorithms to partially utilize the dependence between phenotypes of two ears. We conducted simulation studies to compare different transformation methods and to assess the performance of different QDA algorithms. The empirical results suggested that the transformation may only be beneficial when the sample size is relatively small. Moreover, our proposed new QDA algorithms performed better than the conventional approach in both person‐level and ear‐level accuracy. As an illustration, we applied them to audiometric data from the Medical University of South Carolina Longitudinal Cohort Study of Age‐related Hearing Loss. In addition, we developed an R package, PairQDA, to implement the proposed algorithms.

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Association of polycyclic aromatic hydrocarbons exposure, systemic inflammation with hearing loss among adults and adolescents

Chen

Ruan

et al. 2022

Environmental Pollution

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Hearing loss in inherited metabolic disorders: A systematic review

Cited by 4 publications

References 124 publications

Sensorineural Hearing Loss in a Child with Succinic Semialdehyde Dehydrogenase Deficiency

Sensorineural Hearing Loss in a Child with Succinic Semialdehyde Dehydrogenase Deficiency

New Quadratic Discriminant Analysis Algorithms for Correlated Audiometric Data

Association of polycyclic aromatic hydrocarbons exposure, systemic inflammation with hearing loss among adults and adolescents

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