Biochemistry and genetics of inherited disorders of peroxisomal fatty acid metabolism.

Abstract:

: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_name

J Lipid Res

authors

Van Veldhoven PP

doi

10.1194/jlr.R005959

subject

Has Abstract

pub_date

2010-10-01 00:00:00

pages

2863-95

issue

10

eissn

0022-2275

issn

1539-7262

pii

jlr.R005959

journal_volume

51

pub_type

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