An Overview on Audiological Abnormalities in Gaucher's Disease

Document Type : Review Articles

Authors

1 Professor of Pediatrics Department, Faculty of Medicine, Zagazig university, Egypt

2 Associate Professor of Audio Vestibular Medicine Department, Faculty of Medicine, Zagazig university, Egypt

3 Pediatrics Department, Faculty of Medicine, Zagazig University, Egypt

Abstract

Background: A group of metabolic disorders known as glycosphingolipid (GSL) lysosomal storage illnesses are brought on by mutations in the genes that code for the activator proteins or hydrolases that catabolise GSLs inside lysosomes. The most prevalent lysosomal storage disease, Gaucher's disease (GD), is a multi-systemic, autosomal recessive glycosphingolipid condition. It is brought on by decreased activity of the lysosomal acid β-glucosidase enzyme glucocerebrosidase, which causes glucosylceramide to build up in the lysosomes of the monocyte-macrophage system. The existence of these aberrant cells in different organs causes the symptoms and physiopathological characteristics of GD disease, and each patient's experience with the disease differs significantly. In earlier research, GD patients were evaluated audiologically. The primary method for assessing how the auditory system contributes to the development of disease is still the auditory brainstem response (ABR). However, it is still unknown how aberrant findings relate to brainstem involvement. We review the scientific literature and present our data. Conclusion: All GD patients require thorough, ongoing monitoring of their hearing abilities, and other factors, regardless of their original diagnosis. The predictive significance of some of the identified biomarkers for eventual neurodegeneration should be evaluated in future prospective investigations.

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Zagazig University Medical Journal
Volume 31, Issue 4
April 2025
Pages 1470-1479

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