title: A case of uridine diphosphate galactose-4-epimerase deficiency detected by neonatal screening for galactosaemia.
abstract: An infant with a deficiency of the enzyme uridine diphosphate galactose-4-epimerase was detected during galactosaemia screening of the Queensland newborn population. No case of epimerase deficiency has been reported previously in Australia and the incidence in our population is unknown. A deficiency of this enzyme is usually quite benign although two cases with a galactosaemia-like syndrome have been reported. This infant is developing normally, both intellectually and physically, in spite of extremely high levels of red blood cell galactose-1-phosphate. The introduction of newer methods of galactosaemia screening in Australia will probably result in the detection of other cases of this enzyme deficiency.
mesh_terms: D001315:Australia; D002238:Carbohydrate Epimerases / Q000172:deficiency*; D002662:Child Health Services; D005693:Galactosemias / Q000453:epidemiology / Q000517:prevention & control*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008403:Mass Screening; D014534:UDPglucose 4-Epimerase / Q000172:deficiency*
chemical_list: D002238:Carbohydrate Epimerases; D014534:UDPglucose 4-Epimerase