A case of uridine diphosphate galactose-4-epimerase deficiency detected by neonatal screening for galactosaemia

F. G. Bowling, D. K B Fraser, A. E. Clague, A. Hayes, D. J. Morris

Research output: Contribution to journalArticle

7 Citations (Scopus)

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 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.

Original languageEnglish
Pages (from-to)150-151
Number of pages2
JournalMedical Journal of Australia
Volume144
Issue number3
Publication statusPublished - 1986
Externally publishedYes

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