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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
2
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pubmed:dateCreated |
1982-4-22
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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.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/Galactosephosphates,
http://linkedlifedata.com/resource/pubmed/chemical/Hexosephosphates,
http://linkedlifedata.com/resource/pubmed/chemical/Nucleotidyltransferases,
http://linkedlifedata.com/resource/pubmed/chemical/UDPglucose-Hexose-1-Phosphate...,
http://linkedlifedata.com/resource/pubmed/chemical/galactose-1-phosphate
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pubmed:status |
MEDLINE
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pubmed:month |
Feb
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pubmed:issn |
0009-9147
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
28
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
301-5
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:6276048-Adolescent,
pubmed-meshheading:6276048-Adult,
pubmed-meshheading:6276048-Child,
pubmed-meshheading:6276048-Child, Preschool,
pubmed-meshheading:6276048-Erythrocytes,
pubmed-meshheading:6276048-Female,
pubmed-meshheading:6276048-Galactosemias,
pubmed-meshheading:6276048-Galactosephosphates,
pubmed-meshheading:6276048-Hexosephosphates,
pubmed-meshheading:6276048-Humans,
pubmed-meshheading:6276048-Infant,
pubmed-meshheading:6276048-Infant, Newborn,
pubmed-meshheading:6276048-Male,
pubmed-meshheading:6276048-Nucleotidyltransferases,
pubmed-meshheading:6276048-Plasma,
pubmed-meshheading:6276048-UDPglucose-Hexose-1-Phosphate Uridylyltransferase
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pubmed:year |
1982
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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.
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pubmed:publicationType |
Journal Article
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