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Screening for galactosaemia in Greece

K Schulpis1, E D Papakonstantinou, H Michelakakis

  • 1Institute of Child Health, Aghia Sophia Children's Hospital, Athens, Greece.

Paediatric and Perinatal Epidemiology
|November 28, 1997
PubMed
Summary

Newborn screening for galactosaemia is effective, leading to near-normal outcomes. This study found a high frequency of galactosaemia and related disorders in 199,642 screened infants.

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Area of Science:

  • Biochemistry
  • Genetics
  • Neonatal Medicine

Background:

  • Galactosaemia is a treatable metabolic disorder.
  • Newborn screening is crucial for early detection and management.
  • Early intervention can prevent severe complications.

Purpose of the Study:

  • To evaluate the effectiveness of newborn screening for galactosaemia.
  • To determine the frequency of galactosaemia and related genetic variants.
  • To assess the feasibility of achieving normal outcomes through early detection.

Main Methods:

  • Colorimetric microassay on Guthrie cards to measure galactose and galactose-1-phosphate.
  • Screening of 199,642 newborns.
  • Genetic analysis to identify specific galactosaemia subtypes.

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Main Results:

  • Identified nine cases of classic galactosaemia.
  • Detected three cases of epimerase deficiency.
  • Found six compound Duarte2/heterozygotes and four compound2 Duarte homozygotes.
  • Observed one of the highest reported frequencies of galactosaemia.

Conclusions:

  • Newborn screening for galactosaemia is highly effective in identifying affected infants.
  • Early diagnosis and management significantly improve patient outcomes.
  • The study highlights a high prevalence of galactosaemia in the screened population.