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

  • D. M. van den Brink
  • R. J. A. WandersEmail author


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 acid Refsum disease phytol α-oxidation peroxisome biogenesis disorder rhizomelic chondrodysplasia punctata peroxisome 

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

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