Peroxisome biogenesis disorders in the Zellweger spectrum

An overview of current diagnosis, clinical manifestations, and treatment guidelines

Nancy E. Braverman, Gerald V. Raymond, William B. Rizzo, Ann B. Moser, Mark E. Wilkinson, Edwin M. Stone, Steven J. Steinberg, Michael F. Wangler, Eric T. Rush, Joseph G. Hacia, Mousumi Bose

Research output: Contribution to journalReview articleResearchpeer-review

57 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)313-321
Number of pages9
JournalMolecular Genetics and Metabolism
Volume117
Issue number3
DOIs
StatePublished - 1 Mar 2016

Fingerprint

Zellweger Syndrome
Guidelines
Newborn Infant
Therapeutics
Inborn Genetic Diseases
Peroxisomes
Genetic Testing
Neurologic Manifestations
Health care
Screening
Genes
Peroxisome biogenesis disorders
Delivery of Health Care
Phenotype
Mutation
Testing

Keywords

  • PEX genes
  • Peroxisome biogenesis disorders
  • Retinal dystrophy
  • Sensorineural hearing loss
  • Treatment guidelines
  • Very long-chain fatty acids
  • Zellweger spectrum disorder

Cite this

Braverman, Nancy E. ; Raymond, Gerald V. ; Rizzo, William B. ; Moser, Ann B. ; Wilkinson, Mark E. ; Stone, Edwin M. ; Steinberg, Steven J. ; Wangler, Michael F. ; Rush, Eric T. ; Hacia, Joseph G. ; Bose, Mousumi. / Peroxisome biogenesis disorders in the Zellweger spectrum : An overview of current diagnosis, clinical manifestations, and treatment guidelines. In: Molecular Genetics and Metabolism. 2016 ; Vol. 117, No. 3. pp. 313-321.
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Braverman, NE, Raymond, GV, Rizzo, WB, Moser, AB, Wilkinson, ME, Stone, EM, Steinberg, SJ, Wangler, MF, Rush, ET, Hacia, JG & Bose, M 2016, 'Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines', Molecular Genetics and Metabolism, vol. 117, no. 3, pp. 313-321. https://doi.org/10.1016/j.ymgme.2015.12.009

Peroxisome biogenesis disorders in the Zellweger spectrum : An overview of current diagnosis, clinical manifestations, and treatment guidelines. / Braverman, Nancy E.; Raymond, Gerald V.; Rizzo, William B.; Moser, Ann B.; Wilkinson, Mark E.; Stone, Edwin M.; Steinberg, Steven J.; Wangler, Michael F.; Rush, Eric T.; Hacia, Joseph G.; Bose, Mousumi.

In: Molecular Genetics and Metabolism, Vol. 117, No. 3, 01.03.2016, p. 313-321.

Research output: Contribution to journalReview articleResearchpeer-review

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AU - Moser, Ann B.

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AU - Hacia, Joseph G.

AU - Bose, Mousumi

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