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Clayton, P.T. et al.

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

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 mumol/L (normal < 15) and a considerably elevated pristanic acid concentration of 50 mumol/L (normal < 2). Plasma concentrations of the C27 bile acids 3 alpha, 7 alpha-dihydroxycholestanoic acid (DHCA) and 3 alpha, 7 alpha, 12 alpha-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 peroxisomal beta-oxidation are discussed. Treatment with a low-phytanic acid diet arrested the progression of the ataxia and led to a slight improvement.[1]

References

Ataxia associated with increased plasma concentrations of pristanic acid, phytanic acid and C27 bile acids but normal fibroblast branched-chain fatty acid oxidation. Clayton, P.T., Johnson, A.W., Mills, K.A., Lynes, G.W., Wilson, J., Casteels, M., Mannaerts, G. J. Inherit. Metab. Dis. (1996) [Pubmed]

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