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PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1982-4-22
pubmed:abstractText
We correlated the clinical symptoms of transferase-deficient galactosemia with the plasma galactose and erythrocyte galactose-1-phosphate concentrations in six galactosemic patients during dietary treatment, in a child before treatment, and in 12 individuals with below-normal erythrocyte hexose-1-phosphate uridylyltransferase activity. All the treated patients were asymptomatic. Normal galactose and either normal or above-normal galactose-1-phosphate concentrations were found. Three of these patients were clinically normal as newborns while ingesting galactose-containing foods and may resemble the asymptomatic Negro galactosemic. The clinical symptoms of galactosemia were observed in the untreated patient, who showed markedly above-normal concentrations of galactose and galactose-1-phosphate, protein and reducing substances in the urine, above-normal bilirubin and alkaline phosphatase in the plasma, with normal values for glucose, aspartate aminotransferase, alanine aminotransferase, and gamma-glutamyltransferase. Clinical improvement in this patient paralleled the decline in erythrocyte galactose-1-phosphate. The individuals with below-normal hexose-1-phosphate uridylyltransferase activity (range 7--17 U/g of hemoglobin) had normal galactose and galactose-1-phosphate concentrations and were asymptomatic.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
0009-9147
pubmed:author
pubmed:issnType
Print
pubmed:volume
28
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
301-5
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1982
pubmed:articleTitle
Clinical significance of plasma galactose and erythrocyte galactose-1-phosphate measurements in transferase-deficient galactosemia and in individuals with below-normal transferase activity.
pubmed:publicationType
Journal Article