The PKU Paradox
A Short History of a Genetic Disease
Publication Year: 2013
Published by: The Johns Hopkins University Press
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Title Page, Copyright Page
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Disease is a fundamental aspect of the human condition. Ancient kind?s written records, and sickness and death still confound us. We have not banished pain, disability, or the fear of death, even if we die, on the average, at older ages, of chronic and not acute ills, corporate time- and place-specific ideas, social assumptions, and ...
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Phenylketonuria, or PKU as it is more familiarly known, is a rare disorder, affecting only about one in fifteen thousand individu-als. In the United States, for example, about 275 infants are born with the disease each year.1 Thus, in a lifetime of practice, most physicians will not encounter a single case. Yet, probably every ...
List of Abbreviations
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Introduction. Pearl Buck, PKU, and Mental Retardation
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...told the story of her cognitively impaired daughter, Carol. At the time, Carol was 30 years old and living at the Vineland Training School in New Jersey, where she had been resident for more than baby; strong and healthy, at first she seemed to develop normally. reassuring, there were mounting signs of trouble. Carol exhibited ...
Chapter 1. The Discovery of PKU as a Metabolic Disorder
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...fine in early infancy but was slow to begin to talk. Consulting the family doctor, this mother, too, was assured there was no cause for concern. A brother, Dag, born when Liv was 3 years old, also severe than his sister?s. Liv learned to speak a few words and exhib-ited a spastic gait and seemingly random movements; in contrast, ...
Chapter 2. PKU as a Form of Cognitive Impairment
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For scientists and clinicians in the early twentieth century, phe-nylketonuria was a scientific puzzle connecting biochemistry and symptoms; for affected children and their families, phenylketon-uria meant living with a cognitive impairment. Before the discov-ery of an effective intervention to prevent neurological symptoms, ...
Chapter 3. Testing and Treating Newborns, 1950–1962
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By the 1950s, scientific medicine offered hope that the medical tual, laboratory, clinical, and practical steps. Scientists and clini-cians needed to agree that high levels of phenylalanine were the problem; they needed to create an affordable infant formula that controlled the intake of phenylalanine but did not exclude other ...
Chapter 4. The Campaign for Mandatory Testing
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United States, where medical practice has historically focused on the diagnosis and treatment of individual patients by their pri-vate physician, with the role of government generally restricted health departments have long played a role in controlling infec-ally been implemented in the context of the private physician?s ...
Chapter 5. Sources of Skepticism
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...icized ?legislation which has included public pressure for a specific therapy at a time when competent medical investigators are not in agreement on the criteria for diagnosis, natural course of the dis-ease or optimal therapy or therapies.?1 The American Academy of tee on the Handicapped Child was especially critical. Its statement ...
Chapter 6. New Paradigms for PKU
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...uria treated early in life led to many interpretations of the ?PKU sented a vindication of Lionel Penrose?s prediction in the 1940s by extension, that other inherited disorders would turn out to be treatable.1 In the words of Charles Scriver (who had studied with digm in at least two other, at the time, more prominent ways: as ...
Chapter 7. Living with PKU
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...is inescapably arduous, given the sheer scale of the required re-duction in dietary protein, the centrality of food to our cultural identities and social relationships, and the nature of the body?s provides only an approximate substitute. We draw here on a series a major metabolic clinic and on other firsthand accounts of life ...
Chapter 8. The Perplexing Problem of Maternal PKU
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In the words of a New England Journal of Medicine editorial in the mid-1960s, ?The solution of one problem often begets new ones,? and the history of PKU prevention is a case in point: ?The oldest early-treated phenylketonuric girls are now more than ten years of age. Mental retardation due to phenylketonuria is waning as a ...
Chapter 9. Who Should Procreate? Perspectives on Reproductive Choice and Responsibility in Postwar America
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...discovery of the gene whose mutations result in PKU, they titled nylketonuria.?1 Rather than highlighting the potential for gene therapy, the authors concluded by predicting that because of their work, ?prenatal diagnosis of classical PKU and carrier detection should become a reality for most of the PKU families in the gen-...
Chapter 10. Newborn Screening Expands
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...care that includes training of personnel in hospitals throughout the country; collection of individually identified blood spots and their transfer from birthing hospitals to a centralized laboratory; high-volume testing for rare conditions at state-sponsored labs; tional standards; notification of families, physicians, and hospitals ...
Epilogue. “The Government Has Your Baby’s DNA”: Contesting the Storage and Secondary Use of Residual Dried Blood Spots
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In the half-century since the advent of the first blood-spot screen-taken place in the context of debates about newborn screening. In the 1960s, there were few commercial interests in newborn screen-ing, and the prevailing ethos held that it was wrong to ?benefit cine did not yet exist.1 Bioethics, with its focus on patients? rights ...
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...recall. To anyone inadvertently excluded from the list of those to Of the debts that she knows she owes, the first and foremost is to Paul J. Edelson, MD, a pediatrician with a long-standing inter-say and also planned to collaborate on this book. However, while the research was still in its early stages, Paul accepted a position ...
A Note on Sources
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No ?biography? of PKU, even a short one, would be complete if it did not pay attention to the lived experience of patients and their families. Indeed, one aim of this book is to provide a more realistic account of life with the disease than readers are likely to encounter in discussions intended for nonspecialists. To that end, be-tween January 2006 and June 2008, Diane Paul conducted in-depth interviews with ...
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Page Count: 304
Illustrations: 12 b&w illus.
Publication Year: 2013
Series Title: Johns Hopkins Biographies of Disease
Series Editor Byline: Charles E. Rosenberg, Series Editor