Newborn screening for galactosemia: a new method used in Manitoba
Greenberg, C.R.; Dilling, L.A.; Thompson, R.; Ford, J.D.; Seargeant, L.E.; Haworth, J.C.
Pediatrics 84(2): 331-335
1989
ISSN/ISBN: 0031-4005 PMID: 2748263 Document Number: 346801
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.