Journal of Inherited Metabolic Disease

, Volume 21, Issue 7, pp 697–728

The metabolism of phytanic acid and pristanic acid in man: A review

  • N. M. Verhoeven
  • R. J. A. Wanders
  • B. T. Poll-The
  • J.-M. Saudubray
  • C. Jakobs
Article

DOI: 10.1023/A:1005476631419

Cite this article as:
Verhoeven, N.M., Wanders, R.J.A., Poll-The, B.T. et al. J Inherit Metab Dis (1998) 21: 697. doi:10.1023/A:1005476631419

Abstract

The branched-chain fatty acid phytanic acid is a constituent of the diet, present in diary products, meat and fish. Degradation of this fatty acid in the human body is preceded by activation to phytanoyl-CoA and starts withone cycle of α-oxidation. Intermediates in this pathway are 2-hydroxy-phytanoyl-CoA and pristanal; the product is pristanic acid. After activation, pristanic acid is degraded by peroxisomal β-oxidation. Several disorders havebeen described in which phytanic acid accumulates, in some cases in combination with pristanic acid. In classical Refsum disease, the enzyme that converts phytanoyl-CoA into 2-hydroxyphytanoyl-CoA – phytanoyl-CoA hydroxylase – is deficient, resulting in highly elevated levels of phytanic acid in blood and tissues. Also in rhizomelic chondrodysplasia punctata, phytanic acid accumulates, owing to a deficiency in the peroxisomal import of proteins with a peroxisomal targeting sequence type 2. In patients affected with generalized peroxisomal disorders, degradation of both phytanic acid and pristanic acid is impaired owing to absence of functional peroxisomes. In bifunctional protein deficiency, the disturbed oxidation of pristanic acid results in elevated levels of this fatty acid and a secondary elevation of phytanic acid. In addition, several variant peroxisomal disorders with unknown aetiology have been described in which phytanic acid and/or pristanic acid accumulate. This review describes the discovery of phytanic acid and pristanic acid and the initial attempts to elucidate the origins and fates of these fatty acids. The current knowledge on the α-oxidation and β-oxidation of these branched-chain fatty acids is summarized. The disorders in which phytanic acid and/or pristanic acid accumulate are described and some remarks are made on the pathogenic mechanisms of elevated levels of phytanic acid and pristanic acid.

Copyright information

© Kluwer Academic Publishers 1998

Authors and Affiliations

  • N. M. Verhoeven
    • 1
  • R. J. A. Wanders
    • 2
  • B. T. Poll-The
    • 3
  • J.-M. Saudubray
    • 4
  • C. Jakobs
    • 1
  1. 1.Department of Clinical Chemistry, Metabolic UnitFree University HospitalAmsterdamThe Netherlands
  2. 2.Departments of Clinical Chemistry and PediatricsAcademic Medical CenterAmsterdamThe Netherlands
  3. 3.Department of Metabolic DiseaseUniversity Hospital ‘The Wilhelmina Kinderziekenhuis’UtrechtThe Netherlands
  4. 4.Hopital Nêcker des Enfants MaladesParisFrance

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