Peroxisome Biogenesis Disorders

Research output: Contribution to journalReview articlepeer-review

147 Scopus citations


The peroxisome biogenesis disorders (PBDs) comprise 12 autosomal recessive complementation groups (CGs). The multisystem clinical phenotype varies widely in severity and results from disturbances in both development and metabolic homeostasis. Progress over the last several years has lead to identification of the genes responsible for all of these disorders and to a much improved understanding of the biogenesis and function of the peroxisome. Increasing availability of mouse models for these disorders offers hope for a better understanding of their pathophysiology and for development of therapies that might especially benefit patients at the milder end of the clinical phenotype.

Original languageEnglish (US)
Pages (from-to)165-211
Number of pages47
JournalAnnual Review of Genomics and Human Genetics
StatePublished - 2003


  • PEX genes
  • Peroxins
  • Protein import
  • Zellweger syndrome

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)


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