Newborn screening for galactosemia: a new method used in Manitoba

Pediatrics. 1989 Aug;84(2):331-5.

Abstract

In July 1983, the Manitoba Perinatal Screening Programme modified its existing procedure for neonatal screening for galactosemia by introducing quantitation of total galactose plus galactose-1-phosphate from dried blood spots using the Multistat centrifugal analyzer. The first 4 years of experience with this method in combination with the Beutler spot test for galactose-1-phosphate uridyl transferase activity is the subject of this report. Of 70,336 newborns screened, 142 (0.20%) met the criteria for clinical follow up. Of these, one child was confirmed to have classical galactosemia and nine children were found to be Duarte/galactosemia genetic compounds. This method of galactosemia screening has proven to be rapid, sensitive, efficient, and the method of choice for mass screening of disorders of galactose metabolism.

MeSH terms

  • Galactose / analysis
  • Galactosemias / diagnosis
  • Galactosemias / epidemiology*
  • Galactosemias / genetics
  • Galactosephosphates / analysis
  • Humans
  • Infant, Newborn
  • Manitoba
  • Mass Screening / methods*

Substances

  • Galactosephosphates
  • galactose-1-phosphate
  • Galactose