Peroxisome biogenesis disorders

Annu Rev Genomics Hum Genet. 2003;4:165-211. doi: 10.1146/annurev.genom.4.070802.110424.


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.

Publication types

  • Review

MeSH terms

  • Animals
  • Disease Models, Animal
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Mice
  • Peroxisomal Disorders / diagnosis
  • Peroxisomal Disorders / genetics*
  • Phenotype
  • Prognosis