Linked Life Data

10649503

Source:http://linkedlifedata.com/resource/pubmed/id/10649503

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2000-2-3
pubmed:abstractText
Glutaryl-CoA dehydrogenase (GCDH) deficiency causes glutaric aciduria type I (GA I), an inborn error of metabolism that is characterized clinically by dystonia and dyskinesia, biochemically by excretion of glutaric and 3-hydroxyglutaric acids in urine, and pathologically by neural degeneration of the caudate and putamen. To date, over 70 mutations in GCDH gene have been identified, single prevalent mutations have been found in communities in which GA I is particularly common, but generally GA I is heterogeneous. The most frequent mutation in Caucasians, R402W, has been identified in 12-16% of alleles. Here we report the frequency of mutation R402W in GA I Spanish patients, the characterization of three novel GCDH polymorphisms (IVS2+48T>C, IVS2-82T>G and 3'UTR 1518A>G) which, in combination with the two polymorphisms previously described (IVS2+64G>C, 1209G>T) gave rise to the first definition of GCDH haplotypes and their frequencies in control population. Linkage disequilibrium has been found between mutation R402W and a specific haplotype, suggesting a single origin for this mutation. Hum Mutat 15:207, 2000.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
1098-1004
pubmed:author
pubmed:copyrightInfo
Copyright 2000 Wiley-Liss, Inc.
pubmed:issnType
Electronic
pubmed:volume
15
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
207
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
2000
pubmed:articleTitle
Evidence of a single origin for the most frequent mutation (R402W) causing glutaryl-CoA dehydrogenase deficiency: identification of 3 novel polymorphisms and haplotype definition.
pubmed:affiliation
Institut de Bioquímica Clínica, Corporació Sanitària, Barcelona, Spain.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't