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Title: Ataxia associated with increased plasma concentrations of pristanic acid, phytanic acid and C-27 bile acids but normal fibroblast branched-chain fatty acid oxidation
Authors: Clayton, P T ×
Johnson, A W
Mills, K A
Lynes, G W
Wilson, John
Casteels, Minne
Mannaerts, Guy #
Issue Date: 1996
Publisher: Kluwer academic publ
Series Title: Journal of Inherited Metabolic Disease vol:19 issue:6 pages:761-8
Abstract: 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.
ISSN: 0141-8955
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Pharmacology Section (-)
Laboratory of Lipid Biochemistry and Protein Interactions
Department of Pharmaceutical & Pharmacological Sciences - miscellaneous
× corresponding author
# (joint) last author

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