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. 1972 Feb;47(251):34–40. doi: 10.1136/adc.47.251.34

Experience of Routine Live-birth Screening for Galactosaemia in a British Hospital, with Emphasis on Heterozygote Detection

Graham Ellis, A Ross Wilcock, David M Goldberg
PMCID: PMC1647993  PMID: 4401641

Abstract

Results are reported of a screening programme for galactosaemia covering a period of 2½ years and 6415 births. The gene frequency for galactosaemia estimated from the data of the screening programme was 0·002. This conflicted with the known live-birth incidence of at least 1: 50,000 during this same period. 2 of the 4 galactosaemic infants concerned died under circumstances that were preventable had they been screened at birth. The need to screen all sick infants for galactosaemia is emphasized, as is the requirement for reliable information on its incidence in Great Britain. The screening test employed (Beutler and Baluda, 1966a) seemed appropriate for this purpose. It was simple to perform and apparently accurate in galactosaemic infants. Its accuracy in detecting heterozygotes is uncertain. This test should be available in all hospitals receiving sick neonates.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. BEUTLER E., BALUDA M. C., STURGEON P., DAY R. A NEW GENETIC ABNORMALITY RESULTING IN GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE DEFICIENCY. Lancet. 1965 Feb 13;1(7381):353–354. doi: 10.1016/s0140-6736(65)91782-4. [DOI] [PubMed] [Google Scholar]
  2. BEUTLER E., BALUDA M., DONNELL G. N. A NEW METHOD FOR THE DETECTION OF GALACTOXEMIA AND ITS CARRIER STATE. J Lab Clin Med. 1964 Oct;64:694–705. [PubMed] [Google Scholar]
  3. Beutler E., Baluda M. C. A simple spot screening test for galactosemia. J Lab Clin Med. 1966 Jul;68(1):137–141. [PubMed] [Google Scholar]
  4. Beutler E., Baluda M. C. Improved method for measuring galactose-I-phosphate uridyl transferase activity of erythrocytes. Clin Chim Acta. 1966 Mar;13(3):369–379. doi: 10.1016/0009-8981(66)90217-8. [DOI] [PubMed] [Google Scholar]
  5. Beutler E., Baluda M. C., Sturgeon P., Day R. W. The genetics of galactose-1-phosphate uridyl transferase deficiency. J Lab Clin Med. 1966 Oct;68(4):646–658. [PubMed] [Google Scholar]
  6. Beutler E., Irwin H. R., Blumenfeld C. M., Goldenburg E. W., Day R. W. Field test of galactosemia screening methods in newborn infants. JAMA. 1967 Feb 13;199(7):501–503. [PubMed] [Google Scholar]
  7. Brandt N. J. Frequency of heterozygotes for hereditary galactosaemia in a normal population. Acta Genet Stat Med. 1967;17(4):289–298. doi: 10.1159/000152075. [DOI] [PubMed] [Google Scholar]
  8. Camus B., Farriaux J. P., Fontaine G. Le dépistage des hétéorzygotes de la galactosémie. Ann Biol Clin (Paris) 1968 Oct-Dec;26(10):1223–1232. [PubMed] [Google Scholar]
  9. Gatti R. A., Manfield P., Hsia D. Y. Screening newborn infants for galactosemia. J Pediatr. 1966 Dec;69(6):1126–1129. doi: 10.1016/s0022-3476(66)80305-0. [DOI] [PubMed] [Google Scholar]
  10. HANSEN R. G., BRETTHAUER R. K., MAYES J., NORDIN J. H. ESTIMATION OF FREQUENCY OF OCCURRENCE OF GALACTOSEMIA IN THE POPULATION. Proc Soc Exp Biol Med. 1964 Feb;115:560–563. doi: 10.3181/00379727-115-28968. [DOI] [PubMed] [Google Scholar]
  11. HOLZEL A., KOMROWER G. M., SCHWARZ V. Galactosemia. Am J Med. 1957 May;22(5):703–711. doi: 10.1016/0002-9343(57)90121-3. [DOI] [PubMed] [Google Scholar]
  12. HSIA D. Y., WALKER F. A. Variability in the clinical manifestations of galactosemia. J Pediatr. 1961 Dec;59:872–883. doi: 10.1016/s0022-3476(61)80317-x. [DOI] [PubMed] [Google Scholar]
  13. Hansen R. G. Hereditary galactosemia. JAMA. 1969 Jun 16;208(11):2077–2082. [PubMed] [Google Scholar]
  14. Hochella N. J., Hill J. B. Fluorometric screening procedure for galactosemia utilizing the autoanalyzer. Clin Chem. 1969 Oct;15(10):949–960. [PubMed] [Google Scholar]
  15. Hsia D. Y. Clinical variants of galactosemia. Metabolism. 1967 May;16(5):419–437. doi: 10.1016/0026-0495(67)90133-3. [DOI] [PubMed] [Google Scholar]
  16. Kelly S., Dzierwa C., Baswell D. Another biochemical variant of galactosemia. Exp Mol Pathol. 1968 Aug;9(1):23–26. doi: 10.1016/0014-4800(68)90046-4. [DOI] [PubMed] [Google Scholar]
  17. Kelly S., Katz S., Burns J., Boylan J. Screening for galactosemia in New York State. Public Health Rep. 1970 Jul;85(7):575–578. [PMC free article] [PubMed] [Google Scholar]
  18. Komrower G. M., Lee D. H. Long-term follow-up of galactosaemia. Arch Dis Child. 1970 Jun;45(241):367–373. doi: 10.1136/adc.45.241.367. [DOI] [PMC free article] [PubMed] [Google Scholar]
  19. LONDON M., MARYMONT J. H., Jr, FULD J. A MICRODIFFUSION TEST FOR CONGENITAL GALACTOSEMIA UTILIZING GALACTOSE-1-C14. Pediatrics. 1964 Mar;33:421–424. [PubMed] [Google Scholar]
  20. Mathai C. K., Beutler E. Electrophoretic variation of galactose-1-phosphate uridyltransferase. Science. 1966 Dec 2;154(3753):1179–1180. doi: 10.1126/science.154.3753.1179. [DOI] [PubMed] [Google Scholar]
  21. McGuinness R., Saunders R. A. Erythrocyte galactose-I-phosphate uridyl transferase and glucose-6-phosphate dehydrogenase activity in the population of the Rhondda Fach. Clin Chim Acta. 1967 May;16(2):221–226. doi: 10.1016/0009-8981(67)90184-2. [DOI] [PubMed] [Google Scholar]
  22. Mellman W. J., Allen F. H., Jr, Baker L., Tedesco T. A. Direct evidence of mutation at the locus for galactose-1-phosphate uridyl transferase. Pediatrics. 1970 Apr;45(4):672–676. [PubMed] [Google Scholar]
  23. Nelson K., Hsia D. Y. Screening for galactosemia and glucose-6-phosphate dehydrogenase deficiency in newborn infants. J Pediatr. 1967 Oct;71(4):582–585. doi: 10.1016/s0022-3476(67)80113-6. [DOI] [PubMed] [Google Scholar]
  24. ROBINSON A. THE ASSAY OF GALACTOKINASE AND GALACTOSE-1-PHOSPHATE URIDYL TRANSFERASE ACTIVITY IN HUMAN ERYTHROCYTES. A PRESUMED TEST FOR HETEROZYGOUS CARRIERS OF THE GALACTOSEMIC DEFECT. J Exp Med. 1963 Sep 1;118:359–370. doi: 10.1084/jem.118.3.359. [DOI] [PMC free article] [PubMed] [Google Scholar]
  25. SCHWARZ V., WELLS A. R., HOLZEL A., KOMROWER G. M. A study of the genetics of galactosaemia. Ann Hum Genet. 1961 Dec;25:179–188. doi: 10.1111/j.1469-1809.1962.tb01518.x. [DOI] [PubMed] [Google Scholar]
  26. Shih V. E., Levy H. I., Karolkewicz V., Houghton S., Efron M. L., Isselbacher K. J., Beutler E., MacCready R. A. Galactosemia screening of newborns in Massachusetts. N Engl J Med. 1971 Apr 8;284(14):753–757. doi: 10.1056/NEJM197104082841404. [DOI] [PubMed] [Google Scholar]
  27. Tengström B. Automated blood galactose analysis as a screening method for galactosaemia in milk-fed newborns. Scand J Clin Lab Invest. 1969 May;23(3):197–200. doi: 10.3109/00365516909077649. [DOI] [PubMed] [Google Scholar]
  28. Woolf L. I. Recent studies on galactosaemia, phenylketonuria and homocystinuria. Proc Nutr Soc. 1968 Mar;27(1):88–95. doi: 10.1079/pns19680019. [DOI] [PubMed] [Google Scholar]

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