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

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Braverman, Nancy E., Raymond, Gerald V., Rizzo, William B., Moser, Ann B., Wilkinson, Mark E., Stone, Edwin M., Steinberg, Steven J., Wangler, Michael F. +3 more·2016·Molecular Genetics and Metabolism
DOI 10.1016/j.ymgme.2015.12.009PMC PMC5214431
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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.

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  • Primary adrenal insufficiency is common in patients with X-ALD or other peroxisomal disorders.

    “Primary adrenal insufficiency is common in patients with X-ALD or other peroxisomal disorders [420,421].”

    From Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy (2025) · cites this paper as [421]

    Section 3.9, “Adrenal insufficiency,” reports a high prevalence of primary adrenal insufficiency in a study of 29 patients with PBD-ZSD and says it has also occurred in other peroxisomal disorders, particularly X-ALD. It does not establish that adrenal insufficiency is common across X-ALD and other peroxisomal disorders generally. (LLM, conf=0.84)

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Authors
Braverman, N. E., Raymond, G. V., Rizzo, W. B., Moser, A. B., Wilkinson, M. E., Stone, E. M., Steinberg, S. J., Wangler, M. F., Rush, E. T., Hacia, J. G., & Bose, M.
Affiliations
  • McGill University Health Centre (CA)
  • University of Minnesota (US)
  • University of Nebraska Medical Center (US)
  • Kennedy Krieger Institute (US)
  • University of Iowa (US)
  • Johns Hopkins University (US)
  • Baylor College of Medicine (US)
  • University of Southern California (US)
  • Global Foundation for Peroxisomal Disorders (US)
Corresponding author
Bose, Mousumi
ORCID
Venue
Molecular Genetics and Metabolism
Publisher
Elsevier BV
Published
2016-03
Volume
117
Issue
3
Pages
313-321
ISSN
1096-7192 (ISSN-L)
DOI
10.1016/j.ymgme.2015.12.009
PMC
PMC5214431
OpenAlex
W2209919074
Cited by
281
References
6
Citations by year
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FWCI
1.88
Type
journal article
Language
en
Open access
Licence
www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Locations
  • Molecular Genetics and Metabolism (publishedVersion)
  • PubMed (publishedVersion)
  • Europe PMC (PubMed Central) (acceptedVersion)
  • PubMed Central (acceptedVersion)
Funders
  • National Human Genome Research Institute (R01HG011795)
  • National Institute of Neurological Disorders and Stroke (K08NS076547)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
  • Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
  • Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
Keywords
peroxisome biogenesis disorders, PEX genes, peroxisome biogenesis, newborn screening, genetic testing, clinical phenotype, disease diagnosis, treatment guidelines, personalized medicine, peroxisomal disorders
MeSH terms
Adult, Genetic Testing, Hearing Loss, Sensorineural, Humans, Membrane Proteins, Mutation, Phenotype, Zellweger Syndrome, Practice Guidelines as Topic, Peroxisomal Disorders, Peroxisomes, PHEX Phosphate Regulating Neutral Endopeptidase, Precision Medicine, Retinal Dystrophies

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

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