The PKU Paradox: A Short History of a Genetic Disease [NOOK Book]

Overview

In a lifetime of practice, most physicians will never encounter a single case of PKU. Yet every physician in the industrialized world learns about the disease in medical school and, since the early 1960s, the newborn heel stick test for PKU has been mandatory in many countries. Diane B. Paul and Jeffrey P. Brosco’s beautifully written book explains this paradox.

PKU (phenylketonuria) is a genetic disorder that causes severe cognitive impairment if it is not detected and treated ...

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The PKU Paradox: A Short History of a Genetic Disease

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Overview

In a lifetime of practice, most physicians will never encounter a single case of PKU. Yet every physician in the industrialized world learns about the disease in medical school and, since the early 1960s, the newborn heel stick test for PKU has been mandatory in many countries. Diane B. Paul and Jeffrey P. Brosco’s beautifully written book explains this paradox.

PKU (phenylketonuria) is a genetic disorder that causes severe cognitive impairment if it is not detected and treated with a strict and difficult diet. Programs to detect PKU and start treatment early are deservedly considered a public health success story. Some have traded on this success to urge expanded newborn screening, defend basic research in genetics, and confront proponents of genetic determinism. In this context, treatment for PKU is typically represented as a simple matter of adhering to a low-phenylalanine diet. In reality, the challenges of living with PKU are daunting.

In this first general history of PKU, a historian and a pediatrician explore how a rare genetic disease became the object of an unprecedented system for routine testing. The PKU Paradox is informed by interviews with scientists, clinicians, policymakers, and individuals who live with the disease. The questions it raises touch on ongoing controversies about newborn screening and what happens to blood samples collected at birth.

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Editorial Reviews

Journal of Medical Genetics - Harvey L. Levy

Paul and Brosco are to be congratulated on producing an extremely worthwhile, interesting and very readable book. I highly recommend it to geneticists, bioethicists, to those directly or indirectly involved in newborn screening, and to all others who wish to understand the basis for the current enthusiasm about the role of genetics and genetic screening in health and the prevention of disease.

Social History of Medicine - Mara Buchbinder

The ability to illustrate a wide range of historical themes through a single, compelling case will make The PKU Paradox particularly useful for undergraduate teaching, as will the short, concisely written chapters. It is not an easy task to clearly portray the history of a subject as complex and elusive as disease, and Paul and Brosco have done an admirable job in this regard. The PKU Paradox will be essential reading for anyone interested in the sociocultural, ethical and historical aspects of PKU and newborn screening more generally.

Health and History - Philippa Martyr

This book is a fascinating biography of this syndrome... enriched by illustrations from public health campaigns, advertising material for PKU-friendly supplements, and interviews with people who have lived with PKU and who have given first-hand accounts of their lived experience... The PKU Paradox is a useful and provoking addition to the Biographies of Disease series.

Quarterly Review of Biology - John B. Jenkins

Paul and Brosco are to be commended for reminding us all how central the PKU story has been to the development of genetics and medicine, the connection of genotype to phenotype to society, and to the way this society views people with intellectual disabilities. This is a book that should be read by all geneticists and physicians and people with an interest and concern about individuals for with intellectual impairments.

Isis - Soraya De Chadarevian

The PKU Paradox is a clearly and engagingly written book that provides an excellent introduction to the history of a disease and its broader implications in twentieth-century biomedicine.

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Product Details

  • ISBN-13: 9781421411323
  • Publisher: Johns Hopkins University Press
  • Publication date: 11/5/2013
  • Series: Johns Hopkins Biographies of Disease
  • Sold by: Barnes & Noble
  • Format: eBook
  • Pages: 320
  • File size: 4 MB

Meet the Author

Diane B. Paul is a professor emerita at the University of Massachusetts, Boston, and a research associate at the Museum of Comparative Zoology, Harvard University. Jeffrey P. Brosco, M.D., is a professor of clinical pediatrics at the Miller School of Medicine, University of Miami. He serves as chair of the Pediatric Bioethics Committee at Jackson Memorial Hospital and is associate director of the Mailman Center for Child Development.

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