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Uridine Diphosphate Galactose 4-Epimerase Deficiency

Am J Dis Child. 1980;134(10):995. doi:10.1001/archpedi.1980.02130220071025.
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In addition to the galactosemias associated with galactose-1-phosphate uridylyltransferase and galactokinase deficiency, uridine diphosphate (UDP) galactose 4-epimerase deficiency is a third disorder of galactose metabolism characterized by the inability to epimerize UDPgalactose and UDPglucose. The first case was discovered during the course of newborn screening in Switzerland.1 We would like to report observations on an infant whose condition was discovered in newborn screening and whose erythrocytes lack the capability to convert UDPgalactose to UDPglucose.

Patient and Methods.—The patient is the child of healthy parents. His blood was collected on filter paper for routine screening. Active uridyltransferase was indicated by the appearance of fluorescence in an enzyme spot screening test. The Paigen assay indicated a concentration of high levels of galactose and galactose-1-phosphate.2.3

At 3 months of age, he was referred to our hospital for the evaluation of the high level of galactose-1-phosphate in his blood. Epimerase activities


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