A Retrospective Study of Hearing Loss in Patients Diagnosed with Peroxisome Biogenesis Disorders in the Zellweger Spectrum.

ABSTRACT:

Objectives

Peroxisome Biogenesis Disorders in the Zellweger Spectrum (PBD-ZSD) are autosomal recessive disorders characterized by defects in peroxisome function, biosynthesis, and/or assembly. Despite its frequent documentation, hearing loss associated with PBD-ZSD has not been extensively characterized. The purpose of this retrospective natural history study was to better characterize the hearing loss associated with PBD-ZSD and to provide additional insight into the evaluation and management of PBD-ZSD patients with hearing loss.

Design

Audiological data from medical records of 42 patients with PBD-ZSD or D-bifunctional protein deficiency were collected from an ongoing longitudinal retrospective natural history study. An initial dataset of 300 audiograms and/or audiometric

SUBMITTER: Lee J 

PROVIDER: S-EPMC8881323 | biostudies-literature | 2022 Mar/Apr

REPOSITORIES: biostudies-literature