Phytanic acid: production from phytol, its breakdown and role in human disease


DOI: 10.1007/s00018-005-5463-y

Cite this article as:
van den Brink, D.M. & Wanders, R.J.A. Cell. Mol. Life Sci. (2006) 63: 1752. doi:10.1007/s00018-005-5463-y


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.


Phytanic acidRefsum diseasephytolα-oxidationperoxisome biogenesis disorderrhizomelic chondrodysplasia punctataperoxisome

Copyright information

© Birkhäuser Verlag, Basel 2006

Authors and Affiliations

  1. 1.Laboratory of Genetic Metabolic Diseases (F0-224), Academic Medical CentreUniversity of AmsterdamAmsterdamThe Netherlands
  2. 2.MRC Centre for Developmental NeurobiologyKing’s College LondonLondonUnited Kingdom