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Zellweger spectrum disorders: clinical overview and management approach

Femke C C Klouwer1,2, Kevin Berendse3,4, Sacha Ferdinandusse5

  • 1Department of Paediatric Neurology, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Meibergdreef 9, PO BOX 22660, 1105 AZ, Amsterdam, The Netherlands. f.c.klouwer@amc.uva.nl.

Orphanet Journal of Rare Diseases
|December 3, 2015
PubMed

Insights

Zellweger spectrum disorders (ZSDs) are peroxisomal biogenesis disorders. This review details current supportive care and management recommendations for ZSD patients, as no cure exists.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Zellweger spectrum disorders (ZSDs) are a significant group of peroxisomal biogenesis disorders.
  • These disorders stem from defects in PEX genes, leading to impaired peroxisome function.
  • ZSDs present a clinical and biochemical continuum with varied phenotypes, from severe neonatal to mild adult presentations.

Purpose of the Study:

  • To review the management strategies for Zellweger spectrum disorders.
  • To provide recommendations for supportive therapeutic options for ZSD patients.
  • To aid healthcare professionals in caring for individuals with ZSDs.

Main Methods:

  • Literature review of existing studies on Zellweger spectrum disorders.
  • Analysis of clinical and biochemical data related to ZSD phenotypes.
  • Synthesis of current knowledge on supportive care and management.

Main Results:

  • ZSDs result in metabolic abnormalities detectable in blood and urine.
  • No curative therapy is currently available for ZSDs.
  • Supportive care is the primary approach to managing ZSDs.

Conclusions:

  • Effective management of ZSDs relies on comprehensive supportive care.
  • Recommendations are provided to guide therapeutic options for ZSD patients.
  • Further research into ZSDs may improve patient outcomes.

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