Screening of amino acid enzymopathies in pregnancy and possibilities of their prenatal diagnosis.
The report discusses the first results obtained by chromatographic screening of the blood amino acids in pregnant women at the outset of pregnancy. Typical cases of maternal phenylketonuria and maternal hyperphenylalaninaemia found among 2,000 women examined are described in detail, giving a concise metabolic, clinical and genetic picture. The biochemical possibilities of diagnosing congenital disorders of amino acid metabolism before birth are also discussed.
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics; D000596:Amino Acids / Q000032:analysis; D000653:Amniotic Fluid / Q000032:analysis; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008403:Mass Screening; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis
D000596:Amino Acids