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

doi:10.1016/j.ymgme.2015.12.009

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

Journal article

Peer reviewed

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, …

Molecular Genetics and Metabolism, Vol.117(3), pp.313-321

03/2016

DOI: 10.1016/j.ymgme.2015.12.009

PMCID: PMC5214431

PMID: 26750748

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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. •There is a pressing need for formalized clinical guidelines for PBD-ZSD.•We provide an overview of current clinical approaches for the diagnosis of PBD-ZSD.•We provide treatment guidelines for the major affected organ systems in PBD-ZSD.•This is a starting point for effective clinical management of PBD-ZSD.

Sensorineural hearing loss

Zellweger spectrum disorder

Very long-chain fatty acids

Peroxisome biogenesis disorders

Treatment guidelines

Retinal dystrophy

PEX genes

Details

Title: Subtitle: Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines
Creators: Nancy E Braverman - McGill University Health Centre, 1001 Décarie Blvd Block E, EM02230, Montreal, QC H4A3J1, Canada
Gerald V Raymond - Department of Neurology, University of Minnesota, 516 Delaware Street SE, Minneapolis, MN 55455, USA
William B Rizzo - Department of Pediatrics, University of Nebraska Medical Center, 985456 Nebraska Medical Center — MMI 3062, Omaha, NE 68198-5456, USA
Ann B Moser - Hugo W. Moser Research Institute at Kennedy Krieger, 707 N. Broadway, Baltimore, MD 21205, USA
Mark E Wilkinson - Carver College of Medicine, Department of Ophthalmology and Visual Sciences, University of Iowa, Stephen A. Wynn Institute for Vision Research, 200 Hawkins Drive, Iowa City, IA 52242, USA
Edwin M Stone - Carver College of Medicine, Department of Ophthalmology and Visual Sciences, University of Iowa, Stephen A. Wynn Institute for Vision Research, 200 Hawkins Drive, Iowa City, IA 52242, USA
Steven J Steinberg - Institute of Genetic Medicine and Department of Neurology, Johns Hopkins University School of Medicine, CMSC1004B, 600 N Wolfe Street, Baltimore, MD 21287, USA
Michael F Wangler - Department of Molecular and Human Genetics, Baylor College of Medicine, Duncan Neurological Research Institute, DNRI-1050, Houston, TX 77030, USA
Eric T Rush - Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, 985440 Nebraska Medical Center, Omaha, NE 68198, USA
Joseph G Hacia - Department of Biochemistry and Molecular Biology, University of Southern California, 1975 Zonal Ave, Los Angeles, CA 90033, USA
Mousumi Bose - Global Foundation for Peroxisomal Disorders, 5147 S. Harvard Avenue, Suite 181, Tulsa, OK 74135, USA
Resource Type: Journal article
Publication Details: Molecular Genetics and Metabolism, Vol.117(3), pp.313-321
DOI: 10.1016/j.ymgme.2015.12.009
PMID: 26750748
PMCID: PMC5214431
NLM abbreviation: Mol Genet Metab
ISSN: 1096-7192
eISSN: 1096-7206
Publisher: Elsevier Inc
Language: English
Date published: 03/2016
Academic Unit: Iowa Neuroscience Institute; Ophthalmology and Visual Sciences
Record Identifier: 9983980077102771

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