Screening for Inherited Metabolic Disease by Plasma Chromatography (Scriver) in a Large City

Abstract

Before introducing a more comprehensive screen such as plasma chromatography, with its potential to detect 20 amino-acid disorders—an advantage over screening methods which detect only phenylketonuria—the greatly increased problems of organization and the effect on the community, midwives, paediatric services, and laboratory should be considered. The three years' experience in Birmingham showed a three-fold increase in cases detected and suggests criteria for further investigation and treatment.