Abstract
In 1963, Massachusetts became the first state to initiate mandatory genetic screening of newborns for phenylketonuria (PKU), an autosomal recessive disorder whose incidence in the United States, Britain, and most of Western Europe is between 1 in 11,000 and 1 in 15,000 births.1 Although aspects of the pathogenesis and population genetics of PKU remain obscure, it has been known since the 1950s that the disease results from a defect in the enzyme phenylalanine hydroxylase, which catalyzes the conversion of phenylalanine (an essential amino acid found in most foods) to tyrosine. In the absence of therapy, phenylalanine accumulates to disastrous levels in the blood. The consequences include severe behavior problems and mental retardation. About 90% of those affected have IQs of less than 50.2
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Notes and References
Editorial, The Lancet, May 25, 1991 p. 1256.
Katherine L. Acuff and Ruth R. Faden, “A History of Prenatal and Newborn Screening Programs: Lessons for the Future,” in Ruth Faden et al.,AIDS, Women, and the Next Generation: Towards a Morally Acceptable Public Policy for HIV Testing of Pregnant Women and Newborns (New York: Oxford University Press, 1991), p. 64.
Lionel S. Penrose, “Phenylketonuria: A Problem in Eugenics,” The Lancet, June 29, 1946, p. 951. This article is a reprint of Penrose’s inaugural lecture at University College, London. Penrose actually experimented with a low-phenylalanine diet in the 1930s; See Daniel J. Kevles, In the Name of Eugenics (New York: Knopf, 1985), pp. 177-178.
Robert Guthrie, letter, “Blood Screening for Phenylketonuria,” Journal of the American Medical Association, 178 (1961) See p. 863.
See Samuel P. Bessman and Judith P. Swazey, “Phenylketonuria: A Study of Biomédical Legislation,” Everett Mendelsohn, et al., eds. Human Aspects of Biomédical Innovation (Cambridge, MA: Harvard University Press, 1971), p. 53; and Acuff and Faden, “A History of Prenatal and Newborn Screening Programs,” p. 64.
Acuff and Faden, “A History of Prenatal and Newborn Screening Programs,” p. 64.
Committee for the Study of Inborn Errors of Metabolism, National Research Council, Genetic Screening: Programs, Principles, and Research (Washington, D.C.: National Academy of Sciences, 1975), p. 23.
Committee, Genetic Screening, p. 50.
Judith P. Swazey, “Phenylketonuria: A Case Study in Biomédical Legislation,” Journal of Urban Law 48 (1971), pp. 883–931. See also Diane B. Paul and Paul J. Edelson, “The Struggle over Metabolic Screening,” in Soraya de Chadarevian and Harmke Kamminga, eds. Molecularising Biology and Medicine: New Practices and Alliances, 1930s–1970s (Reading: Harwood Academic Publishers, 1988), pp. 203-220.
See Bessman and Swazey, “Phenylketonuria,” pp. 54–55. See also Katherine L. Acuff and Ruth R. Faden, “A History of Prenatal and Newborn Screening Programs, pp. 59-93, especially pp. 64-65; and Committee, Genetic Screening, pp. 44-87.
Lori B. Andrews, State Laws and Regulations Governing Newborn Screening (Chicago: American Bar Association, 1985), pp. 1–2.
Paul J. Edelson, “Lessons from the History of Genetic Screening in the U.S.: Policy Past, Present, and Future,” upublished paper, 1995.
Paul J. Edelson, “History of Genetic Screening in the United States I: The Public Debate over Phenylketonuria (PKU) Testing,” abstract of paper for the American Association for the History of Medicine meeting, New York City, April 28-May 1, 1994.
Katherine Bain and Clara Schiffer, Experience with the Use of PL-480 Funds in Developing PKU Programs in Foreign Countries (Children’s Bureau, Department of Health, Education, and Welfare, 1966).
Bain and Schiffer, Experience with the Use of PL-40 Funds, p. 7.
Bain and Schiffer, Experience with the Use of PL-40 Funds, p. 13.
Daniel J. Kevles, In the Name of Eugenics (New York: Knopf, 1985), p.254.
Marvin R. Natowicz and Joseph S. Alper, “Genetic Screening: Triumphs, Problems, and Controversies,” Journal of Public Health Policy, 12 (1991), p. 479.
Collen G. Azen, et al., “Intellectual Development in 12-Year-Old Children Treated for Phenylketonuria,” AJDC, January 1991, p. 35.
Charles R. Scriver, “Phenylketonuria — Genotypes and Phenotypes,” (Editorial,) The New England Journal of Medicine, May 2, 1991, p. 1280.
Jerry E. Bishop and Michael Waldholz, Genome (New York: Simon and Schuster, 1990), pp. 18–19.
Committee, Genetic Screening, pp. 46, 50.
Bessman, “Legislation and Advances,” p. 337.
Committee, Genetic Screening, especially pp.32–40.
Committee, Genetic Screening, pp. 28–29.
Committee, Genetic Screening, p. 34.
Neil A. Holtzman, Proceed with Caution: Predicting Genetic Risks in the Recombinant DNA Era (Baltimore: The Johns Hopkins University Press, 1989), p. 5.
C.C. Mabry, “Phenylketonuria: Contemporary Screening and Diagnosis,” Annals of Clinical and Laboratory Science November-December. 1990, pp. 393–397.
Mark Lappe, Genetic Politics (New York: Simon and Schuster, 1979), pp. 92–93.
Committee, Genetic Screening, pp. 88–89.
Harvey L. Levy, “Nutritional Therapy in Inborn Errors of Metabolism,” in Robert J. Desnick, Treatment of Genetic Diseases (New York: Churchill Livingstone, 1991), p. 16.
Azen, “Intellectual Development,” pp. 38–39.
J. Weglage, et al., “Psychological and Social Findings in Adolescents with Phenylketonuria,” European Journal of Pediatrics July 1992, pp. 522–525.
K. Fishier, et al., “School Achievement in Treated PKU Children,” Journal of Mental Deficiency Research, December 1989, pp. 493–498.
“Phenylketonuria Grows Up” Editorial, p. 1256.
See B. Cabalska, et al., “Termination of Dietary Treatment in Phenylketonuria,” European Journal of Pediatrics, 126 (1977) pp. 253–262; and I. Smith, et al., “Effect of Stopping Low-Phenylalanine Diet on Intellectual Progress of Children with Phenylketonuria,” British Medical Journal, 2 (1978) pp. 723-726. See also M.G. Beasley, “Effect on Intelligence of Relaxing the Low Phenylalanine Diet in Phenylketonuria,” Archives of Disease in Childhood, 66 (March 1991), pp. 311-316.
Virginia E. Schuett, et al., “Diet Discontinuation Policies and Practices of PKU Clinics in the United States,” Am J Public Health, 70 (1980) p. 498.
Virginia E. Schuett, National Survey of Treatment Programs for PKU and Selected other Inherited Metabolic Disorders (Rockville, MD: Bureau of Maternal and Child Health and Resources Development. Public Health Services. U. S. Dept. of Health and Human Services, 1990), p. 11.
Susan Waisbren, et al., “The New England Maternal PKU Project: Identification of At-Risk Women,” American Journal of Public Health, 78 (July 1988) pp. 789–792.
Waisbren, “The New England Maternal PKU Project,” p. 789.
Azen, “Intellectual Development,” p. 39.
Azen, “Intellectual Development,” p. 39, citing N.H. Kirkman, “Projections of a Rebound in Frequency of Mental Retardation from Phenylketonuria,” Applied Research in Mental Retardation, 3 (1982) 319-328.
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Betsy A. Lehman, “State Will Aid Those with Enzyme Deficiency,” The Boston Globe, January 12, 1994, p. 16.
“Price List and Order Form.”
Ellen Wright Clayton, “Screening and Treatment of Newborns,” Houston Law Review (Spring 1992) p. 94.
Committee, Genetic Screening, p.54.
Committee, Genetic Screening, p. 92.
Bernard N. Millner, “Insurance Coverage of Special Foods Needed in the Treatment of Phenylketonuria,” Public Health Reports, January–February 1993, pp. 60–65.
Millner, “Insurance Coverage,” p. 64.
Clayton, “Screening and Treatment of Newborns,” p. 101.
See Lappe, Genetic Politics, p. 92.
Joseph S. Alper and Marvin R. Natowicz, “On Establishing the Genetic Basis of Mental Disease,” Trends in Neurosciences, 16 (1993), pp. 387–389.
See for example, essays by Carl Bereiter, “Genetics and Educability: Educational Implications of the Jensen Debate,” and by N.J. Block and Gerald Dworkin, “IQ, Heritability, and Inequality” in N.J. Block and Gerald Dworkin, The IQ Controversy (New York: Pantheon, 1976), pp. 395-396 and 489; see also Steven Rose, “Environmental Effects on Brain and Behaviour,” in Ken Richardson, et al., Race, Culture and Intelligence (Baltimore: Penguin Books, 1972), p. 135.
Philip Kitcher, Vaulting Ambition: Sociobiology and the Quest for Human Nature (Cambridge, MA: MIT Press, 1985), p. 128.
Dorothy Nelkin and Laurence Tancredi, Dangerous Diagnostics: The Social Power of Biological Information (New York: Basic Books, 1989), p. 160.
Nelkin and Tancredi, Dangerous Diagnostics, p. 161.
Lori B. Andrews, State Laws and Regulations Governing Newborn Screening (Chicago: American Bar Association, 1985) p. 2.
Nelson and Tancredi, Dangerous Diagnostics, pp. 41–42.
Ruth Hubbard and Elijah Wald, Exploding the Gene Myth (Boston: Beacon Press, 1993), pp. 198–99.
Robert Wright, “Dumb bell,” The New Republic, January 2, 1995, p. 6.
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Paul, D.B. (1999). PKU Screening. In: Fortun, M., Mendelsohn, E. (eds) The Practices of Human Genetics. Sociology of the Sciences, vol 21. Springer, Dordrecht. https://doi.org/10.1007/978-94-011-4718-7_9
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