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A case of uridine diphosphate galactose-4-epimerase deficiency detected by neonatal screening for galactosaemia.
Med J Aust. 1986 Feb 03; 144(3):150-1.MJ

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.

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Authors

Bowling FG
No affiliation info available
Fraser DK
No affiliation info available
Clague AE
No affiliation info available
Hayes A
No affiliation info available
Morris DJ
No affiliation info available

MeSH

AustraliaCarbohydrate EpimerasesChild Health ServicesGalactosemiasHumansInfant, NewbornMaleMass ScreeningUDPglucose 4-Epimerase

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

3945203

Citation

Bowling, F G., et al. "A Case of Uridine Diphosphate Galactose-4-epimerase Deficiency Detected By Neonatal Screening for Galactosaemia." The Medical Journal of Australia, vol. 144, no. 3, 1986, pp. 150-1.
Bowling FG, Fraser DK, Clague AE, et al. A case of uridine diphosphate galactose-4-epimerase deficiency detected by neonatal screening for galactosaemia. Med J Aust. 1986;144(3):150-1.
Bowling, F. G., Fraser, D. K., Clague, A. E., Hayes, A., & Morris, D. J. (1986). A case of uridine diphosphate galactose-4-epimerase deficiency detected by neonatal screening for galactosaemia. The Medical Journal of Australia, 144(3), 150-1.
Bowling FG, et al. A Case of Uridine Diphosphate Galactose-4-epimerase Deficiency Detected By Neonatal Screening for Galactosaemia. Med J Aust. 1986 Feb 3;144(3):150-1. PubMed PMID: 3945203.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A case of uridine diphosphate galactose-4-epimerase deficiency detected by neonatal screening for galactosaemia. AU - Bowling,F G, AU - Fraser,D K, AU - Clague,A E, AU - Hayes,A, AU - Morris,D J, PY - 1986/2/3/pubmed PY - 1986/2/3/medline PY - 1986/2/3/entrez SP - 150 EP - 1 JF - The Medical journal of Australia JO - Med J Aust VL - 144 IS - 3 N2 - 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. SN - 0025-729X UR - https://www.unboundmedicine.com/medline/citation/3945203/A_case_of_uridine_diphosphate_galactose_4_epimerase_deficiency_detected_by_neonatal_screening_for_galactosaemia_ L2 - https://doi.org/10.5694/j.1326-5377.1986.tb112246.x DB - PRIME DP - Unbound Medicine ER -