Chromatographic screening of 70,328 neonates for inborn errors of amino acid metabolism.
Between the years 1974 and 1984, amino acid chromatography was performed from dried blood spots and partly from urine of 70 328 neonates. Six cases of phenylketonuria, one histidinaemia, one hyperglycinaemia and three cystinurias were found. Since all these could have been detected by other methods, the regional screening was discontinued in agreement with international recommendations.
D000592:Amino Acid Metabolism, Inborn Errors / Q000453:epidemiology*; D002855:Chromatography, Thin Layer; D006801:Humans; D006814:Hungary; D007231:Infant, Newborn; D008403:Mass Screening / Q000379:methods*