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  • Biochemistry and genetics of inherited disorders of peroxisomal fatty acid metabolism
  • Van Veldhoven PP
  • J Lipid Res 2010[Oct]; 51 (10): 2863-95
  • In humans, peroxisomes harbor a complex set of enzymes acting on various lipophilic carboxylic acids, organized in two basic pathways, alpha-oxidation and beta-oxidation; the latter pathway can also handle omega-oxidized compounds. Some oxidation products are crucial to human health (primary bile acids and polyunsaturated FAs), whereas other substrates have to be degraded in order to avoid neuropathology at a later age (very long-chain FAs and xenobiotic phytanic acid and pristanic acid). Whereas total absence of peroxisomes is lethal, single peroxisomal protein deficiencies can present with a mild or severe phenotype and are more informative to understand the pathogenic factors. The currently known single protein deficiencies equal about one-fourth of the number of proteins involved in peroxisomal FA metabolism. The biochemical properties of these proteins are highlighted, followed by an overview of the known diseases.
  • |Animals[MESH]
  • |Fatty Acids, Unsaturated/*metabolism[MESH]
  • |Fatty Acids/*metabolism[MESH]
  • |Humans[MESH]
  • |Lipid Metabolism/physiology[MESH]
  • |Oxidation-Reduction[MESH]
  • |Peroxisomal Disorders/enzymology/*genetics[MESH]
  • |Peroxisomes/*enzymology/metabolism[MESH]
  • |Phytanic Acid/*metabolism[MESH]

  • *{{pmid20558530}}
    *<b>[ Biochemistry and genetics of inherited disorders of peroxisomal fatty acid metabolism ]</b> J Lipid Res 2010; 51(10) ; 2863-95 Van Veldhoven PP


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    J Lipid Res

    2863 10.51 2010