Linked Life Data

173185

Source:http://linkedlifedata.com/resource/pubmed/id/173185

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
1976-2-20
pubmed:abstractText
The galactose tolerance of individuals with mutant genotypes affecting the activities of galactokinase (GALK) and galactose-1-phosphate uridylyltransferase (GALT) was examined. Genotypes studied were heterozygotes for the GALK and GALT forms of galactosemia, the Duarte-variant GALT, and Philadelphia-variant GALK alleles. The measurements used were urinary concentration of galactose during pregnancy in adults and in infants from the newborn period through the first 5 months of life; the rate of elimination of an intravenous infusion of galactose; and slit-lamp examination of the lens for evidence of cataracts. No unusual urinary excretions of galactose were noted in any of the age groups studied. Intravenous galactose tolerance tests were normal in all but two women, a mother and daughter heterozygous for the GALK-deficient form of galactosemia (GALKG/GALKA). Six other GALKG/GALKA subjects had normal tolerance studies. The intrafamilial consistency and interfamilial differences in the galactose tolerance of GALKG/GALKA individuals suggest heterogeneity of the genes responsible for the GALK-deficient form of galactosemia. Although subclinical cataracts were observed in several individuals, their significance relative to the mutant genotype cannot be resolved with the available data.
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/173185-14043070, http://linkedlifedata.com/resource/pubmed/commentcorrection/173185-14224483, http://linkedlifedata.com/resource/pubmed/commentcorrection/173185-173184, http://linkedlifedata.com/resource/pubmed/commentcorrection/173185-4360930, http://linkedlifedata.com/resource/pubmed/commentcorrection/173185-4674573, http://linkedlifedata.com/resource/pubmed/commentcorrection/173185-5034870, http://linkedlifedata.com/resource/pubmed/commentcorrection/173185-5076908, http://linkedlifedata.com/resource/pubmed/commentcorrection/173185-5553957, http://linkedlifedata.com/resource/pubmed/commentcorrection/173185-5804193, http://linkedlifedata.com/resource/pubmed/commentcorrection/173185-5959625, http://linkedlifedata.com/resource/pubmed/commentcorrection/173185-6021203
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
0002-9297
pubmed:author
pubmed:issnType
Print
pubmed:volume
27
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
748-54
pubmed:dateRevised
2009-11-18
pubmed:meshHeading
pubmed:year
1975
pubmed:articleTitle
Galactose tolerance studies of individuals with reduced galactose pathway activity.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S.