Heterogeneity of Beta-Oxidation Enzyme Defects in Peroxisomal Diseases

  • Winston W. Chen
  • Gerald Hoefler
  • Paul A. Watkins
Part of the NATO ASI Series book series (NSSA, volume 150)


Peroxisomes are spherical or ovoid organelles (diameter, 0.1–1.5 um) limited by a single membrane that are ubiquitious in mammalian cells (1,2). These organelles participate in a number of metabolic cellular processes since multiple biochemical defects such as impaired oxidation of very long chain fatty acids (VLCFA) (3), phytanic acid (4), and pipecolic acid (5), as well as impaired synthesis of plasmalogens (6) and bile acids (7) are observed when peroxisomes are absent or reduced in number (the Zellweger cerebrohepatorenal syndrome). The Zellweger syndrome is usually fatal within the first year of life (8), suggesting that peroxisomes play a vital role in normal cellular metabolism.


Phytanic Acid Bifunctional Enzyme Pipecolic Acid Zellweger Syndrome Very Long Chain Fatty Acid 
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Copyright information

© Plenum Press, New York 1988

Authors and Affiliations

  • Winston W. Chen
    • 1
  • Gerald Hoefler
    • 1
  • Paul A. Watkins
    • 1
  1. 1.John F. Kennedy Institute, Departments of Neurology and Biological ChemistryJohns Hopkins University School of MedicineBaltimoreUSA

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