Further observations in a case of uridine diphosphate galactose-4-epimerase deficiency with a severe clinical presentation.
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.
D001711:Biotransformation; D002238:Carbohydrate Epimerases / Q000172:deficiency*; D004040:Dietary Carbohydrates / Q000378:metabolism / Q000494:pharmacology; D004912:Erythrocytes / Q000378:metabolism; D005260:Female; D005690:Galactose / Q000378:metabolism / Q000494:pharmacology; D005693:Galactosemias / Q000175:diagnosis*; D005695:Galactosephosphates / Q000032:analysis; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D014534:UDPglucose 4-Epimerase / Q000032:analysis / Q000172:deficiency*; D014531:Uridine Diphosphate Galactose / Q000032:analysis
D004040:Dietary Carbohydrates; D005695:Galactosephosphates; C029973:galactose-1-phosphate; D014531:Uridine Diphosphate Galactose; D002238:Carbohydrate Epimerases; D014534:UDPglucose 4-Epimerase; D005690:Galactose