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 industrialised 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. Broscos 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.
Foreword, by Charles E. Rosenberg Preface List of Abbreviations Introduction: Pearl Buck, PKU, and Mental Retardation 1. The Discovery of PKU as a Metabolic Disorder 2. PKU as a Form of Cognitive Impairment 3. Testing and Treating Newborns, 19501962 4. The Campaign for Mandatory Testing 5. Sources of Skepticism 6. New Paradigms for PKU 7. Living with PKU 8. The Perplexing Problem of Maternal PKU 9. Who Should Procreate? Perspectives on Reproductive Choice and Responsibility in Postwar America 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
""Paul and Brosco enable the reader to shift their gaze from PKU the paradigm to PKU the disease, in all its historical and biological complexity. For this reason, this book will be of interest to historians and practitioners of medicine alike. Moreover, it also serves as an excellent example of the constructive possibilities inherent in a collaboration between historians and physicians, and indeed, of the value of such an approach.""
