Audiologic follow up results of child with NGLY1 deficiency

Authors

  • Ogulcan Gundogdu Istanbul University-Cerrahpasa, Faculty of Health Sciences, Department of Audiology, Istanbul, Türkiye
  • Cem Yeral Istanbul University-Cerrahpasa, Faculty of Health Sciences, Department of Audiology, Istanbul, Türkiye
  • Oguz Yilmaz Istanbul Medipol University, Faculty of Health Sciences, Department of Audiology, Istanbul, Türkiye
  • Yildirim Ahmet Bayazit Istanbul Medipol University, Faculty of Medicine, Department of Otolaryngology, Istanbul, Türkiye

Keywords:

Auditory neuropathy, Cochlear microphonics, Congenital disorder of deglycosylation, NGLY1, Progressive hearing loss

Abstract

NGLY1 deficiency is a rare in which affected individuals show developmental delay/intellectual disability in the mild to profound range, epilepsy, auditory neuropathy, abnormal liver function, complex hyperkinetic movement disorder and poor growth. Here, we present the follow-up results of hearing status in a patient with NGLY1 deficiency.

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Published

2023-06-23

Issue

Vol. 30 No. 6 (2023): June

Section

Case Reports

License

Copyright (c) 2023 Annals of Medical Research

Creative Commons License

This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

CC Attribution-NonCommercial-NoDerivatives 4.0

How to Cite

1.
Audiologic follow up results of child with NGLY1 deficiency. Ann Med Res [Internet]. 2023 Jun. 23 [cited 2025 Feb. 23];30(6):737-9. Available from: http://annalsmedres.org/index.php/aomr/article/view/4443