ABSTRACT

Newborn screening for phenylketonuria (PKU) is today among the most routine of medical procedures. In many countries, including the U.S., Canada, the nations of Western and most of Eastern Europe, Israel, Egypt, Japan, Australia and New Zealand, virtually all infants are tested for this autosomal recessive disease. Unless the parents receive a positive result, they may not be aware that a test has been done, even in those American states where they have the legal right of refusal.