Phytanic acid is a branched-chain fatty acid that accumulates in a variety of metabolic disorders. High levels of phytanic acid found in patients can exceed the millimolar range and lead to severe symptoms. Degradation of phytanic acid takes place by α-oxidation inside the peroxisome. A deficiency of its breakdown, leading to elevated levels, can result from either a general peroxisomal dysfunction or from a defect in one of the enzymes involved in α-oxidation. Research on Refsum disease, belonging to the latter group of disorders and characterized by a deficiency of the first enzyme of α-oxidation, has extended our knowledge of phytanic acid metabolism and pathology of the disease greatly over the past few decades. This review will centre on this research on phytanic acid: its origin, the mechanism by which its α-oxidation takes place, its role in human disease and the way it is produced from phytol.
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Received 4 October 2005; received after revision 24 February 2006; accepted 26 April 2006
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van den Brink, D.M., Wanders, R.J.A. Phytanic acid: production from phytol, its breakdown and role in human disease. Cell. Mol. Life Sci. 63, 1752 (2006). https://doi.org/10.1007/s00018-005-5463-y