Linked Life Data

8982949

Source:http://linkedlifedata.com/resource/pubmed/id/8982949

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
1997-3-20
pubmed:abstractText
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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0141-8955
pubmed:author
pubmed:issnType
Print
pubmed:volume
19
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
761-8
pubmed:dateRevised
2007-3-21
pubmed:meshHeading
pubmed:year
1996
pubmed:articleTitle
Ataxia associated with increased plasma concentrations of pristanic acid, phytanic acid and C27 bile acids but normal fibroblast branched-chain fatty acid oxidation.
pubmed:affiliation
Biochemistry Unit, Institute of Child Health, London, UK.
pubmed:publicationType
Journal Article, Case Reports