Newborn Screening for Urea Cycle Disorders
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.
KeywordsNewborn Screening Growth Zone Inborn Error Neonatal Screening Orotic Acid
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- 4.E.W. Naylor, A.P. Orfanos, and R. Guthrie, A simple screening test for arginase deficiency (hyperargininemia), J. Lab. Clin. Med. 89: 987 (1977).Google Scholar
- 7.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).Google Scholar
- 11.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).Google Scholar
- 12.World Health Organization, “Screening for inborn errors of metabolism”, Report of a WHO scientific group, WHO Tech. Rep. Ser. No. 401, Geneva (1968).Google Scholar
- 13.National Academy of Sciences, “Genetic Screening - Programs, Principles, and Research”, Report of the Committee for the Study of Inborn Errors of Metabolism, Washington (1975).Google Scholar
- 14.R. Guthrie, Mass screening for genetic disease, Hosp. Practice 7: 93 (1972).Google Scholar