Newborn screening for galactosemia: a new method used in Manitoba.
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.
Greenberg
C R
CR
University of Manitoba, Children's Hospital, Winnipeg, Canada.
Dilling
L A
LA
Thompson
R
R
Ford
J D
JD
Seargeant
L E
LE
Haworth
J C
JC
D005690:Galactose / Q000032:analysis; D005693:Galactosemias / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D005695:Galactosephosphates / Q000032:analysis; D006801:Humans; D007231:Infant, Newborn; D008350:Manitoba; D008403:Mass Screening / Q000379:methods*
D005695:Galactosephosphates; C029973:galactose-1-phosphate; D005690:Galactose