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Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines.

ABSTRACT: Peroxisome biogenesis disorders in the Zellweger spectrum (PBD-ZSD) are a heterogeneous group of genetic disorders caused by mutations in PEX genes responsible for normal peroxisome assembly and functions. As a result of impaired peroxisomal activities, individuals with PBD-ZSD can manifest a complex spectrum of clinical phenotypes that typically result in shortened life spans. The extreme variability in disease manifestation ranging from onset of profound neurologic symptoms in newborns to progressive degenerative disease in adults presents practical challenges in disease diagnosis and medical management. Recent advances in biochemical methods for newborn screening and genetic testing have provided unprecedented opportunities for identifying patients at the earliest possible time and defining the molecular bases for their diseases. Here, we provide an overview of current clinical approaches for the diagnosis of PBD-ZSD and provide broad guidelines for the treatment of disease in its wide variety of forms. Although we anticipate future progress in the development of more effective targeted interventions, the current guidelines are meant to provide a starting point for the management of these complex conditions in the context of personalized health care.

SUBMITTER: Braverman NE

PROVIDER: S-EPMC5214431 | biostudies-literature | 2016 Mar

REPOSITORIES: biostudies-literature

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Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines.

Braverman Nancy E NE Raymond Gerald V GV Rizzo William B WB Moser Ann B AB Wilkinson Mark E ME Stone Edwin M EM Steinberg Steven J SJ Wangler Michael F MF Rush Eric T ET Hacia Joseph G JG Bose Mousumi M

Molecular genetics and metabolism 20151223 3

Peroxisome biogenesis disorders in the Zellweger spectrum (PBD-ZSD) are a heterogeneous group of genetic disorders caused by mutations in PEX genes responsible for normal peroxisome assembly and functions. As a result of impaired peroxisomal activities, individuals with PBD-ZSD can manifest a complex spectrum of clinical phenotypes that typically result in shortened life spans. The extreme variability in disease manifestation ranging from onset of profound neurologic symptoms in newborns to prog ...[more]

PMID: 26750748

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Project description:ObjectivesPeroxisome 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.DesignAudiological 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 test results from the 42 patients were used to characterize the degree of hearing loss, type of hearing loss, relationships between air and bone conduction thresholds, age-related changes in hearing loss, and benefit with amplification.ResultsThe majority of PBD-ZSD patients in this study presented with moderately-severe to severe hearing loss and relatively slow rates of longitudinal changes in hearing sensitivity. Improvements in hearing thresholds were observed with use of hearing aid amplification. Though bone conduction data were limited, air-bone gaps and air conduction threshold fluctuations observed in several patients suggest there may be an increased occurrence of mixed hearing losses in PBD-ZSD populations.ConclusionThe results of this retrospective study provide insight into the hearing loss associated with PBD-ZSD, but also emphasize the need for more complete assessments of hearing loss type and middle ear function in these patients. The addition of more comprehensive datasets to the ongoing natural history study will enhance our understanding of the pathophysiology underlying PBD-ZSD and guide the development of targeted evaluation and management recommendations for patients with PBD-ZSD.

Dataset Information

Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines.

Publications

Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines.

Similar Datasets

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