Abstract
The red-cell concentrations of galactose-1-phosphate and uridine diphosphate galactose have been studied in relation to dietary galactose in a case of uridine diphosphate galactose-4-epimerase deficiency (McKusick 23035). Uridine diphosphate galactose accumulates rapidly in response to very small amounts of galactose but the concentration of galactose-1-phosphate increases proportionately to galactose intake. The significance of the observation is discussed with respect to the pathogenesis and treatment of the disease.
MeSH terms
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Biotransformation
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Carbohydrate Epimerases / deficiency*
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Dietary Carbohydrates / metabolism
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Dietary Carbohydrates / pharmacology
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Erythrocytes / metabolism
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Female
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Galactose / metabolism
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Galactose / pharmacology
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Galactosemias / diagnosis*
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Galactosephosphates / analysis
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Humans
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Infant
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Infant, Newborn
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UDPglucose 4-Epimerase / analysis
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UDPglucose 4-Epimerase / deficiency*
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Uridine Diphosphate Galactose / analysis
Substances
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Dietary Carbohydrates
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Galactosephosphates
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galactose-1-phosphate
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Uridine Diphosphate Galactose
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Carbohydrate Epimerases
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UDPglucose 4-Epimerase
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Galactose