Detection of the most frequent congenital amino acid enzymopathies by multiple screening.

Abstract

The lecture submits a survey of the most frequent primary congenital disorders of amino acid metabolism and discusses their diagnostic significance for clinical biochemistry, paediatrics and antenatal medicine. The results of multiple chromatographic screening of these diseases, which has been carried out systematically since 1961, are commented on. It was demonstrated that all congenital disorders of amino acid metabolism can be found in the Czechoslovak population, provided that they are systematically diagnosed. The incidence of individual diseases in series of healthy and mentally retarded children belonging to different age groups is shown in the relevant tables.