| Autor: |
Clayton, P. T., Johnson, A. W., Mills, K. A., Lynes, G. W., Wilson, J., Casteels, M., Mannaerts, G. |
| Zdroj: |
Journal of Inherited Metabolic Disease; November 1996, Vol. 19 Issue: 6 p761-768, 8p |
| Abstrakt: |
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 C26concentration and normal C24/C22and C26/C22ratios. 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 C27bile acids 3a,7a-dihydroxycholestanoic acid (DHCA) and 3a,7a,12a-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 peroxisomalß-oxidation are discussed. Treatment with a low-phytanic acid diet arrested the progression of the ataxia and led to a slight improvement. |
| Databáze: |
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