The PKU Paradox

A Short History of a Genetic Disease

Diane B. Paul, Jeffrey P. Brosco

• Publisher: Johns Hopkins University Press
• Year: 2013
• eBook ISBN: 9781421411323
• Edition: 0
• Topic: Medicine
• Subtopic: Genetics in Medicine

Named one of the "Ten must-read science histories" by Science Magazine

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.

Table of contents

• Cover Page
• Title Page
• Copyright Page
• Contents
• Foreword
• Preface
• List of Abbreviations
• Introduction. Pearl Buck, PKU, and Mental Retardation
• Chapter 1. The Discovery of PKU as a Metabolic Disorder
• Chapter 2. PKU as a Form of Cognitive Impairment
• Chapter 3. Testing and Treating Newborns, 1950–1962
• Chapter 4. The Campaign for Mandatory Testing
• Chapter 5. Sources of Skepticism
• Chapter 6. New Paradigms for PKU
• Chapter 7. Living with PKU
• Chapter 8. The Perplexing Problem of Maternal PKU
• Chapter 9. Who Should Procreate? Perspectives on Reproductive Choice and Responsibility in Postwar America
• Chapter 10. Newborn Screening Expands
• Epilogue. “The Government Has Your Baby’s DNA”: Contesting the Storage and Secondary Use of Residual Dried Blood Spots
• Acknowledgments
• A Note on Sources
• Notes
• Index