Early detection of inborn errors of metabolism in Poland.
A screening programme for early detection of inborn errors of metabolism in Polish newborn population has been evaluated. Guthrie bacterial inhibition assay for amino-acidopathies, Beutler and Baluda test for galactosemia, meconium test and ion-selective chloride electrode for cystic fibrosis, radioimmunological test for congenital hypothyroidism, and multidirectional urine screening test are described and the results discussed.
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis / Q000453:epidemiology; D003550:Cystic Fibrosis / Q000175:diagnosis; D005693:Galactosemias / Q000175:diagnosis; D006801:Humans; D007037:Hypothyroidism / Q000175:diagnosis; D008403:Mass Screening; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000453:epidemiology; D011044:Poland; D012306:Risk