Treatment of infantile phytanic acid storage disease: clinical, biochemical and ultrastructural findings in two children treated for 2 years

Eur J Pediatr. 1988 Feb;147(2):133-42. doi: 10.1007/BF00442210.


Two patients with infantile phytanic acid storage disease (infantile Refsum disease), one of whom showed the presence of morphologically normal peroxisomes in a liver biopsy, were treated with a low phytanic acid diet for more than 2 years and the effects of treatment on certain clinical, biochemical and ultrastructural parameters were examined. Both patients showed evidence of either an improvement or stabilisation in their clinical condition. Plasma phytanic acid levels decreased to near normal values in approximately 6 weeks after the introduction of the diet; plasma pipecolic acid also declined markedly but the decrease was not so rapid and its level remained abnormal. C26:C22 fatty acid ratios decreased very slowly and even after 2 years the values remained grossly abnormal. Despite the marked reduction of phytanic acid in the liver, there was an increase in the C26:C22 fatty acid ratios and this appeared to be paralleled by an increase in inclusion bodies. Our data suggest that some patients with the infantile form of Refsum disease may show some clinical benefit from dietary management and this is reflected biochemically by decreases in the plasma levels of phytanic acid and pipecolic acid.

Publication types

  • Case Reports

MeSH terms

  • Eicosanoic Acids / administration & dosage*
  • Fatty Acids / blood
  • Humans
  • Infant
  • Liver / ultrastructure
  • Lysosomes / ultrastructure
  • Male
  • Microbodies / ultrastructure
  • Phytanic Acid / administration & dosage*
  • Phytanic Acid / blood
  • Pipecolic Acids / blood
  • Refsum Disease / blood
  • Refsum Disease / diet therapy*
  • Refsum Disease / pathology
  • Sural Nerve / physiopathology


  • Eicosanoic Acids
  • Fatty Acids
  • Pipecolic Acids
  • Phytanic Acid
  • hexacosanoic acid
  • pipecolic acid
  • behenic acid