NEWBORN SCREENING FOR GALACTOSEMIA - A NEW METHOD USED IN MANITOBA
- 1 August 1989
- journal article
- research article
- Vol. 84 (2), 331-335
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.This publication has 7 references indexed in Scilit:
- Polymorphism of Erythrocyte Galactose-1-Phosphate Uridyl-Transf erase in Italy: Segregation Analysis in 693 FamiliesHuman Heredity, 1984
- Galactose intolerance in individuals with double heterozygosity for Duarte variant and galactosemiaThe Journal of Pediatrics, 1982
- Improved technique for electrophoresis of human galactose-1-P uridyl transferase (EC 2.7.7.12)Human Genetics, 1977
- Variants of galactose-1-phosphate uridyl transferase in the Greek populationsHuman Genetics, 1977
- An improved procedure for the assay of hemolysate galactose-1-phosphate uridyl transferase activity by the use of 14C-labeled galactose-1-phosphateClinica Chimica Acta; International Journal of Clinical Chemistry, 1967
- Improved method for measuring galactose-1-phosphate uridyl transferase activity of erythrocytesClinica Chimica Acta; International Journal of Clinical Chemistry, 1966
- A SIMPLE SPOT SCREENING TEST FOR GALACTOSEMIA1966