Linked Life Data

7131031

Source:http://linkedlifedata.com/resource/pubmed/id/7131031

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1982-12-21
pubmed:abstractText
We have previously reported a unique disorder in two brothers with multi-system neuronal degeneration, hepatosplenomegaly and adrenocortical deficiency. The clinical features were different from Refsum's disease. Biochemical analysis suggested that a metabolic defect of the omega 6 polyenoic fatty acid pathway may be involved. In the present study, were have further identified by gas chromatography-mass spectrometry two branched-chain fatty acids, phytanate and pristanate, in these two patients' plasma. This small, but unequivocally elevated elevated amount of branched-chain fatty acids were primarily localized in the triacylglycerols of plasma low density lipoprotein. Such branched-chain fatty acids were not detected in skin, liver and sural nerve samples. These two cases may represent an alternative metabolic error to that found in Refsum's disease leading to phytanate accumulation.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
0022-510X
pubmed:author
pubmed:issnType
Print
pubmed:volume
55
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
185-95
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed:year
1982
pubmed:articleTitle
Presence of plasma branched-chain fatty acids in multineuronal degeneration, hepatosplenomegaly and adrenocortical insufficiency.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Case Reports, Research Support, Non-U.S. Gov't