Biochemistry and genetics of inherited disorders of peroxisomal fatty acid metabolism

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Abstract

In humans, peroxisomes harbor a complex set of enzymes acting on various lipophilic carboxylic acids, organized in two basic pathways, α-oxidation and β-oxidation; the latter pathway can also handle ω-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. Copyright © 2010 by the American Society for Biochemistry and Molecular Biology, Inc.

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APA

Van Veldhoven, P. P. (2010, October). Biochemistry and genetics of inherited disorders of peroxisomal fatty acid metabolism. Journal of Lipid Research. https://doi.org/10.1194/jlr.R005959

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