Galactosaemia: estimated live birth incidence in New Zealand.
194 cord blood samples were studied in both a fluorimetric assay and an electrophoresis method for Gal-1-PUT. From this the expected live birth incidence was 1:37000. The New Zealand neonatal screening programme has detected 5 cases in 223326 live births--an apparent incidence of 1:44600. The Beutler testing of dried blood spots collected on filter paper cards is a satisfactory method of detecting galactosaemia in the neonate.
D005312:Fetal Blood / Q000201:enzymology; D005693:Galactosemias / Q000453:epidemiology*; D005787:Gene Frequency; D014644:Genetic Variation; D006801:Humans; D008403:Mass Screening; D009520:New Zealand; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000097:blood
D005694:UTP-Hexose-1-Phosphate Uridylyltransferase