Metabolic and molecular basis of peroxisomal disorders: a review

Am J Med Genet A. 2004 May 1;126A(4):355-75. doi: 10.1002/ajmg.a.20661.


The group of peroxisomal disorders now includes 17 different disorders with Zellweger syndrome as prototype. Thanks to the explosion of new information about the functions and biogenesis of peroxisomes, the metabolic and molecular basis of most of the peroxisomal disorders has been resolved. A review of peroxisomal disorders is provided in this paper.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • ATPases Associated with Diverse Cellular Activities
  • Fatty Acids / metabolism
  • Humans
  • Membrane Proteins / genetics
  • Membrane Proteins / metabolism
  • Models, Biological
  • Oxidation-Reduction
  • Peroxisomal Disorders / diagnosis
  • Peroxisomal Disorders / genetics*
  • Peroxisomal Disorders / metabolism*
  • Peroxisomes / metabolism


  • Fatty Acids
  • Membrane Proteins
  • ATPases Associated with Diverse Cellular Activities
  • PEX1 protein, human