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Galactosaemia--a controversial disorder. Screening & outcome. Ireland 1972-1992

N Badawi1, S F Cahalane, M McDonald

  • 1Children's Hospital, Dublin.

Irish Medical Journal
|January 1, 1996
PubMed
Summary

Newborn screening for galactosaemia in Ireland detected 1:23,000 cases, with higher rates in itinerants. Early diagnosis and treatment significantly improved survival and reduced complications, though long-term effects require further research.

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Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Galactosaemia is a rare genetic disorder affecting galactose metabolism.
  • Newborn screening programs aim for early detection and intervention to prevent severe complications.

Purpose of the Study:

  • To review 20 years of galactosaemia screening data in Ireland.
  • To assess the effectiveness of screening, diagnosis, and management of galactosaemia.

Main Methods:

  • Review of screening data from 1972-1992 for 1.2 million infants.
  • Follow-up of 32 diagnosed patients.
  • Analysis of diagnostic methods (Bacterial Inhibition Assay, Beutler test) and clinical outcomes.

Main Results:

  • Detected 55 classical galactosaemia and 7 Duarte Variant cases (frequency 1:23,000).

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  • Higher incidence in itinerants (1:700).
  • Mean diagnosis age 6.9 days; 41/62 cases symptomatic.
  • 9 deaths occurred, primarily in early screening years and among itinerants.
  • 13/32 followed children had no complications; 19 had various issues (cataracts, developmental delay, etc.).
  • Screening prevented infant deaths.
  • False negatives occurred due to feeding practices and formula types.

    • Conclusions:

    • Newborn screening for galactosaemia is effective in reducing mortality.
    • Early diagnosis and neonatal care enhance survival.
    • While diet improves symptoms, long-term complications persist.
    • Further research is needed to understand the mechanisms of complications, especially mental deficiency.