Book ID: CBB001213162

The PKU Paradox: A Short History of a Genetic Disease (2013)


Paul, Diane B. (Author)
Brosco, Jeffrey P. (Author)

Johns Hopkins University Press

Publication Date: 2013
Physical Details: 304 pp.; ill.
Language: English

PKU (phenylketonuria) is a genetic disorder that causes severe cognitive impairment if it is not detected and treated with a strict and difficult diet. 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. The development of state programs for early detection of and treatment for PKU is deservedly considered a great public health success story. Advocates have traded on this success to urge expanded newborn screening, to defend basic research in genetics, and to confront proponents of genetic determinism. When deployed for these purposes, 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, policy makers, 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.

Reviewed By

Review Eduardo Díaz Amado (2020) Review of "Imperfect Pregnancies: A History of Birth Defects and Prenatal Diagnosis". Historical Studies in the Natural Sciences (pp. 183-198). unapi

Review Serpente, Norberto (2015) Review of "The PKU Paradox: A Short History of a Genetic Disease". British Journal for the History of Science (pp. 533-534). unapi

Review Martyr, Philippa (2014) Review of "The PKU Paradox: A Short History of a Genetic Disease". Health and History (pp. 124-125). unapi

Review Buchbinder, Mara (2014) Review of "The PKU Paradox: A Short History of a Genetic Disease". Social History of Medicine (pp. 829-830). unapi

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Authors & Contributors
Hankins, Richard
Miller, Fiona Alice
Johnson, Ericka
Watkins, Elizabeth Siegel
Báguena Cervellera, M. J.
Zhang, Daqing
Medical History
Studies in History and Philosophy of Science Part C: Studies in History and Philosophy of Biological and Biomedical Sciences
Social Studies of Science
Social History of Medicine
Asclepio: Archivo Iberoamericano de Historia de la Medicina
Ziran Kexueshi Yanjiu (Studies in the History of Natural Sciences)
MIT Press
Johns Hopkins University Press
University of California, Berkeley with the University of California, San Francisco
Massachusetts Institute of Technology, MIT
University of Wales, Bangor (United Kingdom
Brewin Books
Medical education and teaching
Disease and diseases
Medical technology
Genetic diseases and disorders
Sanchis-Bayarri Vaillant, Vicente
Time Periods
20th century, late
21st century
20th century
20th century, early
Great Britain
Valencia (Spain)
United States
Birmingham (England)
World Health Organization (WHO)
Institut Pasteur, Paris
Rockefeller Foundation

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