Linked Life Data

3383438

Source:http://linkedlifedata.com/resource/pubmed/id/3383438

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1988-8-11
pubmed:abstractText
Probands with the Philadelphia variant of galactokinase (GALKP) are black people who exhibit reduced galactokinase (GALK) activity in their red blood cells (RBC), but normal activity in their white blood cells (WBC). This reduced RBC GALK was demonstrated in disrupted erythrocytes. To investigate the possibility of a missing cofactor in hemolysates from individuals with GALKP phenotype, we compared [1-14C]galactose oxidation by intact erythrocytes, with the direct GALK assay in disrupted erythrocytes. The rate of [1-14C]glucose oxidation was also measured in order to differentiate an impaired galactose metabolism from a defect further along the pentose phosphate pathway. A good correlation (p less than 0.001) was found between the direct GALK assay and [1-14C]galactose oxidation in control subjects, which indicates that this method can be used effectively for the detection of GALK defects. This was further supported by studies on samples from heterozygotes and homozygotes for the GALKG deficient gene. For all the probands with a GALKP phenotype, diminished CO2 production from galactose was observed in the absence of impaired glucose metabolism. This allowed us to confirm the existence of a GALK deficiency in intact erythrocytes due to the GALKP variant. Further studies of RBC GALK catalytic properties are needed to investigate the molecular basis of this GALK deficiency.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
0009-8981
pubmed:author
pubmed:issnType
Print
pubmed:day
13
pubmed:volume
174
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
101-10
pubmed:dateRevised
2008-11-21
pubmed:meshHeading
pubmed:year
1988
pubmed:articleTitle
The Philadelphia variant of galactokinase: impaired [1-14C]galactose oxidation by intact erythrocytes.
pubmed:affiliation
Laboratoire de Biochimie, Hôpital Bicêtre, Paris, France.
pubmed:publicationType
Journal Article, In Vitro