In the present paper, we describe the current state of knowledge regarding the enzymology of the phytanic acid α-oxidation pathway. The product of phytanic acid α-oxidation, i.e. pristanic acid, undergoes three cycles of β-oxidation in peroxisomes after which the products, including 4,8-dimethylnonanoyl-CoA, propionyl-CoA and acetyl-CoA, are exported from the peroxisome via one of two routes, including (i) the carnitine-dependent route, mediated by CRAT (carnitine acetyltransferase) and CROT (carnitine O-octanoyltransferase), and (ii) the free acid route, mediated by one or more of the peroxisomal ACOTs (acyl-CoA thioesterases). We also describe our recent data on the ω-oxidation of phytanic acid, especially since pharmacological up-regulation of this pathway may form the basis of a new treatment strategy for ARD (adult Refsum's disease). In patients suffering from ARD, phytanic acid accumulates in tissues and body fluids due to a defect in the α-oxidation system.
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Conference Article| October 25 2007
Peroxisomes, Refsum's disease and the α- and ω-oxidation of phytanic acid
R.J.A. Wanders 1
1Genetic Metabolic Diseases Laboratory, Room F0-224, Departments of Clinical Chemistry and Pediatrics, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
1To whom correspondence should be addressed (email email@example.com).
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R.J.A. Wanders, J.C. Komen; Peroxisomes, Refsum's disease and the α- and ω-oxidation of phytanic acid. Biochem Soc Trans 1 November 2007; 35 (5): 865–869. doi: https://doi.org/10.1042/BST0350865
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