Peroxisomal disorders: the single peroxisomal enzyme deficiencies

Biochim Biophys Acta. 2006 Dec;1763(12):1707-20. doi: 10.1016/j.bbamcr.2006.08.010. Epub 2006 Aug 23.


Peroxisomal disorders are a group of inherited diseases in man in which either peroxisome biogenesis or one or more peroxisomal functions are impaired. The peroxisomal disorders identified to date are usually classified in two groups including: (1) the disorders of peroxisome biogenesis, and (2) the single peroxisomal enzyme deficiencies. This review is focused on the second group of disorders, which currently includes ten different diseases in which the mutant gene affects a protein involved in one of the following peroxisomal functions: (1) ether phospholipid (plasmalogen) biosynthesis; (2) fatty acid beta-oxidation; (3) peroxisomal alpha-oxidation; (4) glyoxylate detoxification, and (5) H2O2 metabolism.

Publication types

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

MeSH terms

  • Fatty Acids / metabolism*
  • Glyoxylates / metabolism*
  • Humans
  • Hydrogen Peroxide / metabolism
  • Oxidation-Reduction
  • Peroxisomal Disorders / etiology
  • Peroxisomal Disorders / genetics*
  • Peroxisomal Disorders / metabolism
  • Peroxisomes / enzymology*
  • Plasmalogens / metabolism*


  • Fatty Acids
  • Glyoxylates
  • Plasmalogens
  • Hydrogen Peroxide
  • glyoxylic acid