Linked Life Data

2378358

Source:http://linkedlifedata.com/resource/pubmed/id/2378358

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1990-9-4
pubmed:abstractText
Fluorometric quantitative tyrosine determination on dried-blood spots is the primary neonatal screening test used for tyrosinemia type I (HT) in the province of Quebec. Succinylacetone determination on these same spots is used as the complementary test when the tyrosine level is higher than a given threshold. This procedure has proved to be less discriminant over the past few years because of changes in newborn feeding and because of early discharge of newborns from the nursery. We have developed an enzyme-linked immunosorbent assay (ELISA) to measure the deficient enzyme in HT in dried-blood spots. Fumarylacetoacetase (FAH) (E.C.3.7.1.2) was measured retrospectively by an ELISA on 25 dried-blood samples from proven patients with HT and prospectively in 72,000 specimens received in the neonatal screening program. In this pilot project, FAH was measured first, and, if necessary, succinylacetone was determined as the complementary test. All 25 samples from proven patients and specimens from four other patients detected in the pilot study have shown almost complete absence of FAH in dried-blood samples. At a cutoff level of 12.5% of normal adult blood spotted on the same type of paper, only 30 other cases disclosed FAH levels low enough to warrant succinylacetone measurement but had no detectable succinylacetone. The false-positive rate is thus 1:2,400 with this primary ELISA. However, blood transfusion in newborns prior to blood collection on filter paper may yield false-negative tests, since FAH is present in erythrocytes of normal donors.(ABSTRACT TRUNCATED AT 250 WORDS)
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/2378358-270706, http://linkedlifedata.com/resource/pubmed/commentcorrection/2378358-2857895, http://linkedlifedata.com/resource/pubmed/commentcorrection/2378358-3317254, http://linkedlifedata.com/resource/pubmed/commentcorrection/2378358-3718716, http://linkedlifedata.com/resource/pubmed/commentcorrection/2378358-4017276, http://linkedlifedata.com/resource/pubmed/commentcorrection/2378358-4113792, http://linkedlifedata.com/resource/pubmed/commentcorrection/2378358-4430143, http://linkedlifedata.com/resource/pubmed/commentcorrection/2378358-5027618, http://linkedlifedata.com/resource/pubmed/commentcorrection/2378358-58743, http://linkedlifedata.com/resource/pubmed/commentcorrection/2378358-6622096, http://linkedlifedata.com/resource/pubmed/commentcorrection/2378358-7116642
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
0002-9297
pubmed:author
pubmed:issnType
Print
pubmed:volume
47
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
325-8
pubmed:dateRevised
2009-11-18
pubmed:meshHeading
pubmed:year
1990
pubmed:articleTitle
Fumarylacetoacetase measurement as a mass-screening procedure for hereditary tyrosinemia type I.
pubmed:affiliation
Department of Genetic Medicine, Laval University Medical Centre, Ste-Foy, Quebec, Canada.
pubmed:publicationType
Journal Article