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A case of uridine diphosphate galactose‐4‐epimerase deficiency detected by neonatal screening for galactosaemia
Author(s) -
Bowling Francis G.,
Fraser David K.B.,
Clague Alan E.,
Morris Darryl J.,
Hayes Alan
Publication year - 1986
Publication title -
medical journal of australia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 131
eISSN - 1326-5377
pISSN - 0025-729X
DOI - 10.5694/j.1326-5377.1986.tb112246.x
Subject(s) - galactosemia , uridine diphosphate , enzyme deficiency , galactose , enzyme , population , incidence (geometry) , uridine , medicine , biochemistry , pediatrics , biology , rna , gene , physics , environmental health , optics
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.