Journal of Inherited Metabolic Disease

, Volume 19, Issue 6, pp 761–768 | Cite as

Ataxia associated with increased plasma concentrations of pristanic acid, phytanic acid and C27 bile acids but normal fibroblast branched-chain fatty acid oxidation

  • P. T. Clayton
  • A. W. Johnson
  • K. A. Mills
  • G. W. Lynes
  • J. Wilson
  • M. Casteels
  • G. Mannaerts
Article
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Accepted:

Summary

Investigations of peroxisomal function were undertaken in an 8-year-old girl who developed motor difficulties at the age of 3.5 years and went on to develop a progressive ataxia and dysarthria. There were no other neurological abnormalities and she was of normal intelligence. Analysis of plasma very long-chain fatty acids revealed a normal C26 concentration and normal C24/C22 and C26/C22 ratios. Analysis of branched-chain fatty acids showed an elevated plasma phytanic acid concentration of 60 µmol/L (normal<15) and a considerably elevated pristanic acid concentration of 50 µmol/L (normal<2). Plasma concentrations of the C27 bile acids 3α,7α-dihydroxycholestanoic acid (DHCA) and 3α,7α,12α-trihydroxycholestanoic acid (THCA) and of the C29-dicarboxylic acid were also increased. We postulated that these results might be due to deficiency of the peroxisomal branched-chain acyl-CoA oxidase, but when oxidation of branched-chain fatty acids was studied in cultured skin fibroblasts it was found to be normal. Alternative explanations for the accumulation of branched-chain substrates for peroxisomalβ-oxidation are discussed. Treatment with a low-phytanic acid diet arrested the progression of the ataxia and led to a slight improvement.

Keywords

Fatty Acid Oxidation Phytanic Acid Increase Plasma Concentration Acid Diet Culture Skin Fibroblast 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
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Copyright information

© SSIEM and Kluwer Academic Publishers 1996

Authors and Affiliations

  • P. T. Clayton
    • 1
  • A. W. Johnson
    • 1
  • K. A. Mills
  • G. W. Lynes
    • 1
  • J. Wilson
    • 1
  • M. Casteels
    • 2
  • G. Mannaerts
    • 2
  1. 1.Biochemistry UnitInstitute of Child Health and Great Ormond Street Hospital for ChildrenLondonUK
  2. 2.Katholieke Universiteit Leuven, Afdeling FarmacologieLeuvenBelgium

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