Skip to main content

Abstract

Newborn screening for galactosaemia has not been as widely accepted as screening for phenylketonuria (PKU) nor as excitedly embraced as the recently introduced screening for hypothyroidism. Experience of over ten years, however, indicates that galactosaemia screening should be included in all programmes of newborn screening for metabolic disorders.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Subscribe and save

Springer+ Basic
$34.99 /Month
  • Get 10 units per month
  • Download Article/Chapter or eBook
  • 1 Unit = 1 Article or 1 Chapter
  • Cancel anytime
Subscribe now

Buy Now

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 39.99
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 54.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

Similar content being viewed by others

References

  1. S. P. Bessman, (1966). Legislation and advances in medical knowledge — acceleration or inhibition? J. Pediatr., 69, 334

    Article  PubMed  CAS  Google Scholar 

  2. G. N. Donnell, R. Koch and W. R. Bergren, (1969). Observations on results of management of galactosemia patients. In D. Y.-Y. Hsia (ed.). Galactosemia, pp. 247–275. (Charles C. Thomas Springfield, Illinois)

    Google Scholar 

  3. H. L. Levy, S. J. Sepe, V. E. Shih, G. F. Vawter and J. O. Klein, (1977). Sepsis due to Escherichia coli in neonates with galactosemia. N. Engl. J. Med., 297, 825

    Article  Google Scholar 

  4. R. Guthrie, (1964). Routine screening for inborn errors in the newborn: ‘inhibition assays’, instant bacteria and multiple tests. In Proceedings of the International Copenhagen Congress on the Scientific Study of Mental Retardation. Vol. II, p. 495. (Copenhage

    Google Scholar 

  5. O. Thalhammer, (1975). Frequency of inborn errors of metabolism, especially PKU, in some representative newborn screening centers around the world. A collaborative study. Humangenetik, 30, 273

    Article  Google Scholar 

  6. E. Beutler and M. C. Baluda, (1966). A single spot screening test for galactosemia,J. Lab. Clin. Med., 68,137

    PubMed  CAS  Google Scholar 

  7. V. E. Shih, H. L. Levy, V. Karolkewicz, S. Houghton, M. L. Efron, K. J. Isselbacher, E. Beutler and R. A. MacCready, (1971). Galactosemia screening in Massachusetts. N. Engl. J. Med., 284, 753

    Article  PubMed  CAS  Google Scholar 

  8. H. L. Levy, S. J. Sepe, D. S. Walton, V. E. Shih, G. Hammersen, S. Houghton and E. Beutler, (1978). Duarte/galactosemia genetic compound variant of galactose-1-phosphate uridyl transferase deficiency: clinical and biochemical studies. J. Pediatr., 92, 390

    Article  PubMed  CAS  Google Scholar 

  9. K. Paigen and F. Pacholec, (1979). A new method of screening neonates for galactosemia. J. Lab. Clin. Med. (In press)

    Google Scholar 

  10. R. Gitzelman, (1976). Fruherfassung von Anomalien im Galakto-sestoffwechsel Methoden und Resultate. Monatsschr. Kinderheilkd., 124, 654

    Google Scholar 

  11. R. P. Schwartz, R. A. Roesel, P. R. Blankenship and W. K. Hall, (1975). Loss of transferase enzyme activity of transfused erythrocytes in galactosemia. South Med. J., [vn 68,301

    Google Scholar 

  12. H. L. Levy and G. Hammersen, (1978). Newborn screening for galactosemia and other galactose metabolic defects. J. Pediatr., 92, 871

    Article  PubMed  CAS  Google Scholar 

Download references

Authors

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 1980 The Society for the Study of Inborn Errors of Metabolism

About this chapter

Cite this chapter

Levy, H.L. (1980). Screening for galactosaemia. In: Burman, D., Holton, J.B., Pennock, C.A. (eds) Inherited Disorders of Carbohydrate Metabolism. Springer, Dordrecht. https://doi.org/10.1007/978-94-009-9215-3_8

Download citation

  • DOI: https://doi.org/10.1007/978-94-009-9215-3_8

  • Publisher Name: Springer, Dordrecht

  • Print ISBN: 978-94-009-9217-7

  • Online ISBN: 978-94-009-9215-3

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics