Linked Life Data

3605066

Source:http://linkedlifedata.com/resource/pubmed/id/3605066

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1987-7-30
pubmed:abstractText
Phosphoglycerate kinase deficiency is a rare, x-linked glycolytic defect that, when severe, can be associated with hemolytic anemia, rhabdomyolysis, or neurological disorders. We report here a new phosphoglycerate kinase variant discovered in a boy with severe hemolytic anemia but no evidence of neuromuscular disease or developmental delay. The biochemical properties of the variant enzyme (greatly increased kmATP and km3-phosphoglycerate; normal pH optimum, electrophoretic mobility, and substrate specificity; resistance to heat inactivation) establish its uniqueness. Separation of light and dense red cells by centrifugation showed no greater loss of phosphoglycerate kinase activity in dense ("old") variant cells than in normal cells. We postulate that the striking stability of the variant enzyme allows cells capable of protein synthesis to accumulate sufficient enzyme to limit neuromuscular sequelae.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
0361-8609
pubmed:author
pubmed:issnType
Print
pubmed:volume
25
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
175-82
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed:year
1987
pubmed:articleTitle
Phosphoglycerate kinase San Francisco: a new variant associated with hemolytic anemia but not with neuromuscular manifestations.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Case Reports