| Abstract: | Multiple screening for aminoacidopathies has been attempted with a simple micromethod (Lancet, 2: 230, 1964) requiring only 10 μl. of plasma collected in a capillary tube and processed by a chromatographic technique. In a survey of 1250 infants, two newborn infants with phenylketonuria, two older infants with hypermethioninemia-tyrosinemia and hepatic cirrhosis were found, and approximately 10% of the premature infants had marked hypertyrosinemia. Multiple screening therefore has the advantage of multiple diagnosis over other techniques which screen specifically for a single disease. Pilot screening projects with this and other techniques could improve our knowledge of heritable metabolic disease so that mass screening for such problems may eventually be justifiable. |
