Phenylketonuria (PKU): NICHD Research Information

Since its establishment, the NICHD has played a major role in PKU-related research. In the 1960s, federally supported researchers demonstrated the safety and effectiveness of a PKU screening test for newborns that allowed the condition to be detected and diagnosed early, before any adverse effects occurred. Later, the NICHD supported research on the safety and efficacy of a Phe-restricted diet for those with PKU as a way to prevent IDD from the condition. As a result, PKU has been nearly eliminated as a cause of intellectual disabilities in the United States.

The Institute’s portfolio covers a variety of topics related to PKU, including pathophysiology (the functional changes that accompany the disorder, pronounced path-oh-fiz-ee-OL-uh-jee), genetics, treatment interventions, pregnancy in women with PKU, and strategies for lifelong management of the disorder. The NICHD also supports research to improve newborn screening technology for PKU (and other conditions) and to expand researchers’ access to screening data.