Linked Life Data

9762602

Source:http://linkedlifedata.com/resource/pubmed/id/9762602

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
1998-12-7
pubmed:abstractText
Male, identical twins presented with hypotonia, hypoglycaemia, dysmorphic facies, feeding problems, discoloured stools, hepatomegaly, and nephrolithiasis. Elevated blood levels of very long-chain fatty acids and bile acids suggested a peroxisomal disorder. Plasmalogen biosynthesis in cultured fibroblasts was reduced. Morphologically distinct peroxisomes were undetectable in liver. Twin 1 suffered from nephrocalcinosis and severe infection, and died at 18 months of age. Twin 2 was blind and physically severely retarded with epilepsy, but survived up to the age of 5 years. Studies of the fatty acid composition of serum lipids showed barely detectable values of eicosapentaenoic (EPA) and docosahexaenoic acid (DHA). During long-term treatment with these n-3 fatty acids, started at age 10 months, the fatty acid profile of the serum lipids was improved or normalized. Since n-3 fatty acids are essential elements in normal development, notably of the nervous system, we suggest that treatment with EPA and DHA should be started as early as possible in general peroxisomal disorders.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
0141-8955
pubmed:author
pubmed:issnType
Print
pubmed:volume
21
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
662-70
pubmed:dateRevised
2007-3-21
pubmed:meshHeading
pubmed:year
1998
pubmed:articleTitle
Generalized peroxisomal disorder in male twins: fatty acid composition of serum lipids and response to n-3 fatty acids.
pubmed:affiliation
Department of Pediatrics, Haukeland Hospital, Bergen, Norway.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't