On the screening for inborn errors of galactose metabolism.
The utility of a simplified diagram of procedures for screening specimens for genetic disorders in galactose metabolism is stressed. Both, early detection and institution of the dietetic treatment are imperative since these inherited disorders have clinical and pathological consequences which can be very severe in galactose-1-phosphate uridyltransferase and uridine diphosphate galactose-4-epimerase deficiencies.
D002238:Carbohydrate Epimerases / Q000172:deficiency; D005686:Galactokinase / Q000172:deficiency; D005693:Galactosemias / Q000201:enzymology / Q000517:prevention & control*; D006801:Humans; D007231:Infant, Newborn; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D014534:UDPglucose 4-Epimerase; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000172:deficiency
D005686:Galactokinase; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase; D002238:Carbohydrate Epimerases; D014534:UDPglucose 4-Epimerase; C020551:galactose epimerase