Peroxisome Biogenesis Disorders in the Zellweger Spectrum: An Overview of Current Diagnosis, Clinical Manifestations, and Treatment Guidelines

Authors

Nancy E. Braverman, McGill UniversityFollow
Gerald V. Raymond, University of Minnesota
William B. Rizzo, University of Nebraska Medical Center
Ann B. Moser, Kennedy Krieger InstituteFollow
Mark E. Wilkinson, University of Iowa
Edwin M. Stone, Johns Hopkins University
Steven J. Steinberg, Baylor College of Medicine
Michael F. Wangler, University of Southern CaliforniaFollow
Eric T. Rush, University of Nebraska Medical Center
Joseph G. Hacia, University of Southern California
Mousumi Bose, Montclair State UniversityFollow

Document Type

Review Article

Publication Date

3-1-2016

Journal / Book Title

Molecular Genetics and Metabolism

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.

DOI

10.1016/j.ymgme.2015.12.009

MSU Digital Commons Citation

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.; and Bose, Mousumi, "Peroxisome Biogenesis Disorders in the Zellweger Spectrum: An Overview of Current Diagnosis, Clinical Manifestations, and Treatment Guidelines" (2016). Department of Nutrition and Food Studies Scholarship and Creative Works. 119.
https://digitalcommons.montclair.edu/nutr-foodstudies-facpubs/119