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Publication

Biochemistry and genetics of inherited disorders of peroxisomal fatty acid metabolism

Journal Contribution - Journal Article

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.
Journal: Journal of Lipid Research
ISSN: 0022-2275
Issue: 10
Volume: 51
Pages: 2863 - 2895
Publication year:2010
BOF-keylabel:yes
IOF-keylabel:yes
BOF-publication weight:2
CSS-citation score:3
Authors from:Higher Education