Linked Life Data

3211616

Source:http://linkedlifedata.com/resource/pubmed/id/3211616

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1989-2-23
pubmed:abstractText
Human carnitine palmitoyl transferase (CTP) deficiency results in two different clinical variants, one with "hepatic" and one with "muscular" symptoms. We studied CPT activity and long-chain fatty acid oxidation in fibroblast cell lines from four patients, two from each group. Overall CPT activity was deficient in patients' fibroblasts with the hepatic presentation, as previously demonstrated in patients' fibroblasts with the muscular presentation. The hepatic patients' fibroblasts displayed a CPT1 deficiency which resulted in impaired long-chain fatty acid oxidation. In contrast, CPT1 activity and palmitate oxidation were normal in muscular patients' fibroblasts. In these latter patients, the mutation presumably involved CPT2 activity. These data suggest that CPT deficiency is due to at least two different mutations, resulting in two distinct patterns of clinical and biochemical abnormalities.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
0031-3998
pubmed:author
pubmed:issnType
Print
pubmed:volume
24
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
308-11
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1988
pubmed:articleTitle
Hepatic and muscular presentations of carnitine palmitoyl transferase deficiency: two distinct entities.
pubmed:affiliation
Département de Biochimie, INSERM U75, CHU Necker, Paris, France.
pubmed:publicationType
Journal Article, Comparative Study, Case Reports