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

• Published in: British Medical Journal Vol. 3; no. 5817; pp. 7 - 13
• Main Authors: Raine, D. N., Cooke, J. R., Andrews, W. A., Mahon, D. F.
• Format: Journal Article
• Language: English
• Published: England British Medical Journal Publishing Group 01.07.1972; British Medical Association; BMJ Publishing Group LTD
• Subjects: Amino Acid Metabolism, Inborn Errors - blood; Amino Acid Metabolism, Inborn Errors - diagnosis; Amino Acid Metabolism, Inborn Errors - genetics; Biochemistry; Blood; Blood Specimen Collection; Chromatography; Chromatography, Paper; Costs and Cost Analysis; Fasting; Food; Histidine - blood; Humans; Hyperlipidemias - diagnosis; Infant, Newborn; Infants; Maple syrup urine disease; Mass Screening; Metabolic diseases; Methionine - blood; Midwifery; Midwives; Papers and Originals; Pediatrics; Phenylalanine - blood; Phenylketonuria; Phenylketonurias - diagnosis; Postal Service; Proline - blood; Specimens; Time Factors; Tyrosine - blood; United Kingdom
• ISSN: 0007-1447; 1468-5833
• DOI: 10.1136/bmj.3.5817.7

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.