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Phenylketonuria and Public Health in the U.S., Britain, and Continental Europe, 1955-1975.
| The ability to detect and treat phenylketonuria (PKU) represents a formative episode in thinking about the interaction of heredity and environment in the making disease. In this recessively-inherited condition, a defective liver enzyme results in an impaired inability to metabolize phenylalanine, an essential amino acid found in all dietary proteins. The accumulation of phenylalanine to toxic levels usually produces severe cognitive disability and other abnormalities. However, as early as the 1930s, it was hypothesized that since phenylalanine is not synthesized endogenously in humans, the effects of the disease might be ameliorated were affected children placed on a diet from which most of the amino acid had been removed. Efforts to produce a synthetic diet finally succeeded in the 1950s, and this achievement was soon followed by the development of a test that could detect the condition in newborns, before permanent brain damage had occurred. The ability to effectively treat PKU not only influenced thinking about the relation of genes and environment in disease, but provided a rationale for new public-health interventions. By the mid-1970s, programs to control the disease had been established in
most industrialized countries. However, PKU is a rare disorder, occurring in from 12,000 to 16,000 live births. This paper explores why control of a disease that directly affected so few individuals would become the object of an unprecedented, nearly world-wide system for the routine and often mandatory testing of newborns.
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