Linked Life Data

8484962

Source:http://linkedlifedata.com/resource/pubmed/id/8484962

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1993-6-10
pubmed:abstractText
Complementation analysis, using peroxisomal beta-oxidation of very long chain fatty acids (VLCFA) as the criterion for complementation, is useful in the study of patients who are suspected of having a single enzyme defect in the peroxisomal beta-oxidation pathway. Laboratory findings for these patients include elevated plasma VLCFA and impaired VLCFA oxidation in fibroblasts. Some of these patients have slightly abnormal phytanic acid oxidation in fibroblasts. In addition, elevated levels of bile acid intermediates have been reported in some cases. Plasmalogen synthesis, pipecolic acid levels, and subcellular distribution of catalase are normal. Using complementation analysis, we show that six patients, who were suspected of having a single enzyme defect in the peroxisomal beta-oxidation pathway, are deficient in peroxisomal bifunctional enzyme [enoyl-CoA hydratase (EC 4.2.1.17)/3-hydroxyacyl-CoA dehydrogenase (EC 1.1.1.35)] activity. This group of six patients, deficient in bifunctional enzyme activity, may be subdivided into two complementation groups. It would appear that patients in each of these two groups are deficient in only one of the bifunctional enzyme activities.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
0885-4505
pubmed:author
pubmed:issnType
Print
pubmed:volume
49
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
228-42
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed:year
1993
pubmed:articleTitle
Complementation analysis of patients with intact peroxisomes and impaired peroxisomal beta-oxidation.
pubmed:affiliation
Kennedy Krieger Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S.