Abstract
Neonatal screening for inherited metabolic disorders is one of the most exciting advances in modern preventive pediatrics. By definition, it is a search in the newborn population for individuals possessing certain genotypes that are either already associated with disease or predisposed to disease. Important preconditions for the establishment of such programs are the availability of effective therapy or improved medical management and the need for early, pre-symptomatic diagnosis. The first successful newborn screening program had its beginnings in the early 1960’s with the development of the Guthrie bacterial inhibition assay for the detection of phenylketonuria (PKU)l. This simple screening test was the first to utilize dried filter paper blood specimens collected by heel prick from newborn infants during the first week of life.
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References
R. Guthrie and A. Susi, A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants, Pediatrics 32: 338 (1963).
H. Bickel, R. Guthrie, and G. Hammersen, “Neonatal Screening for Inborn Errors of Metabolism”, Springer-Verlag, Heidelberg (1980).
W.H. Murphey, L. Patchen, and R. Guthrie, Screening tests for argininosuccinic aciduria, orotic aciduria, and other inherited enzyme deficiencies using dried blood specimens, Biochem. Genet. 6: 51 (1972).
E.W. Naylor, A.P. Orfanos, and R. Guthrie, A simple screening test for arginase deficiency (hyperargininemia), J. Lab. Clin. Med. 89: 987 (1977).
H. Levy, P.M. Madigan, and V.E. Shih, Massachusetts metabolic disorders screening program. 1. Technics and results of urine screening, Pediatrics 49: 825 (1972).
B. Turner and D.A. Brown, Amino acid excretion in infants and early childhood. A survey of 200,000 infants, Med. J. Aust. 1: 62 (1972).
D.A. Applegarth, D.F. Hardwick, S. Israels, and P.M. Ross, Results of a screening program for aminoacidopathies in British Columbia, British Columbia Med. J. 12: 129 (1970).
D.M. Bradley, Screening for inherited metabolic disease in Wales using urine-impregnated filter paper, Arch. Dis. Child. 50: 264 (1975).
D. Shapcott, B. Lemieux, and A. Sahapoglu, A semi-automated device for multiple sample applications to thin-layer chromatography plates, J. Chromatogr. 70: 174 (1972).
T.D. Paul, E.W. Naylor, and R. Guthrie, Urine screening for metabolic disease in newborn infants, J. Pediatrics 96: 653 (1980).
H.W. Talbot, A.B. Sumlin, E.W. Naylor, and R. Guthrie, A neonatal screening test for argininosuccinic acid lyase deficiency and other urea cycle disorders, Pediatrics, in press (1981).
World Health Organization, “Screening for inborn errors of metabolism”, Report of a WHO scientific group, WHO Tech. Rep. Ser. No. 401, Geneva (1968).
National Academy of Sciences, “Genetic Screening - Programs, Principles, and Research”, Report of the Committee for the Study of Inborn Errors of Metabolism, Washington (1975).
R. Guthrie, Mass screening for genetic disease, Hosp. Practice 7: 93 (1972).
E.Beutler and M.D. Baluda, A simple spot screening test for galactosemia, J. Lab. Clin. Med. 68: 137–141 (1966).
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© 1982 Springer Science+Business Media New York
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Naylor, E.W. (1982). Newborn Screening for Urea Cycle Disorders. In: Lowenthal, A., Mori, A., Marescau, B. (eds) Urea Cycle Diseases. Advances in Experimental Medicine and Biology, vol 153. Springer, Boston, MA. https://doi.org/10.1007/978-1-4757-6903-6_3
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DOI: https://doi.org/10.1007/978-1-4757-6903-6_3
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