The PKU Paradox: A Short History of a Genetic Disease

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 sever...