Linked Life Data

1660571

Source:http://linkedlifedata.com/resource/pubmed/id/1660571

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
12
pubmed:dateCreated
1992-1-16
pubmed:abstractText
A patient presenting in the first year of life with feeding difficulties and failure to grow had variable but persistent lactic acidemia noted at age 20 months. Nonspecific nutritional and biochemical therapy was accompanied by improvement in general clinical status, growth, gait, and development. However, she died in a catastrophic illness at the end of the third year of life. Studies in intact fibroblast mitochondria were consistent with an isolated but partial defect in cytochrome c oxidase. On direct assay of this enzyme complex in fibroblast homogenates and mitochondria, activity was much more severely depressed (less than or equal to 8% of control). Her fibroblasts normally synthesized the three cytochrome c oxidase subunits encoded on the mitochondrial genome. These data confirm that this patient had cytochrome c oxidase deficiency and demonstrate significant biochemical heterogeneity, since the results of the intact mitochondrial studies correlate better with her clinical course than do those of the direct enzymatic assays.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
0028-3878
pubmed:author
pubmed:issnType
Print
pubmed:volume
41
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1957-60
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed:year
1991
pubmed:articleTitle
An atypical case of cytochrome c oxidase deficiency with biochemical heterogeneity in fibroblasts.
pubmed:affiliation
Department of Pediatrics, College of Medicine, University of Oklahoma Health Science Center, Oklahoma City.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Case Reports, Research Support, Non-U.S. Gov't