Peroxisomal Disorders

  • G. V. Raymond
  • P. Watkins
  • S. Steinberg
  • J. Powers


Peroxisomal disorders are divided into the two categories: (1) disorders of peroxisome assembly or peroxisome biogenesis disorders (PBD) and (2) single protein defects (it may be better to refer to these as single protein defects, since ABCD1 encodes a protein that appears to be a transporter and not an enzyme) (Raymond, 2001). In the first, the peroxisome fails to form and there are abnormalities of multiple peroxisomal enzymes. It is now understood that these disorders are defects in protein importation or membrane incorporation. The PBDs can be further divided by their clinical and biochemical features into the Zellweger spectrum disorders (ZSD) and rhizomelic chondrodysplasia punctata (RCDP).


Phytanic Acid Bile Acid Synthesis Zellweger Syndrome Peroxisomal Disorder Very Long Chain Fatty Acid 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

List of Abbreviations:


acyl-CoA oxidase deficiency


very long-chain acyl-CoA synthetase


alkyl-DHAP synthase




adult refsum disease


central nervous systems


cytotoxic lymphocytes


D-bifunctional enzyme deficiency


docosahexaenoic acid


dihydroxyacetone phosphate


dihydroxyacetonephosphate acyltransferase


dihydroxycholestanoic acid


docosapentaenoic acid


dorsal root ganglia


fatty acyl-CoA reductase






intercellular adhesion molecules


infantile Refsum disease


L-bifunctional protein


α-methylacyl-CoA racemase


magnetic resonance spectroscopy


neonatal adrenoleukodystrophy


periodic acid-Schiff


peroxisome biogenesis disorders


peroxisome assembly


peripheral nervous systems


rhizomelic chondrodysplasia punctata


sterol carrier protein-X


trihydroxycholestanoic acid


tumor necrosis factor


very long chain fatty acids


white matter


Zellweger syndrome


Zellweger spectrum disorders



This Chapter is dedicated to Professor Hugo Moser, who promoted interdisciplinary research in peroxisomal disorders. Dr. Moser was initially involved in the preparation of this chapter but painfully passed away at the beginning of 2007. Ann, Hugo’s wife, was so kind and alert to have some of Hugo’s coworkers writing the different sections of the Chapter. This very nice Ann’s trait is most gratefully appreciated. Our thanks also go to Annette Snitcher.


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© Springer Science+Business Media, LLC 2009

Authors and Affiliations

  • G. V. Raymond
  • P. Watkins
  • S. Steinberg
  • J. Powers

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