Screening for inherited metabolic disease by plasma chromatography (Scriver) in a large city.
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.
D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D001800:Blood Specimen Collection; D002854:Chromatography, Paper; D003365:Costs and Cost Analysis; D005215:Fasting; D005502:Food; D006639:Histidine / Q000097:blood; D006801:Humans; D006949:Hyperlipidemias / Q000175:diagnosis; D007231:Infant, Newborn; D008403:Mass Screening; D008715:Methionine / Q000097:blood; D008880:Midwifery; D010649:Phenylalanine / Q000097:blood; D010661:Phenylketonurias / Q000175:diagnosis; D011177:Postal Service; D011392:Proline / Q000097:blood; D013997:Time Factors; D014443:Tyrosine / Q000097:blood; D006113:United Kingdom
D014443:Tyrosine; D010649:Phenylalanine; D006639:Histidine; D011392:Proline; D008715:Methionine