PEDIATRICS Vol. 84 No. 2 August 1989, pp. 331-335
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Newborn Screening for Galactosemia: A New Method Used in Manitoba

Cheryl R. Greenberg MD, CM, FRCPC, FCCMG1, Louise A. Dilling ART1, Robert Thompson BSc, DBT, RT1, John D. Ford MSc1, Lorne E. Seargeant PhD1, and James C. Haworth MD, FRCPC, FRCP1

1 The University of Manitoba, Children's Hospital and Cadham Provincial Laboratory, Winnipeg, Manitoba, Canada

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.

Key Words: galactosemia • newborn screening • galactose-1-phosphate uridyl transferase • galactose-1-phosphate

Submitted on April 13, 1988
Accepted on July 21, 1988