The NICHD supports and conducts research on a wide range of topics related to PKU and other metabolic disorders. Research areas include newborn screening, healthy fetal development in pregnant women with PKU, and the pathophysiology of PKU-related intellectual disabilities. Key NICHD research issues include the following:
- Newborn screening: Efforts focus on making improvements to screening technology, supporting longitudinal research on the health of children identified through screening, and expanding access to data from screening for translational research.
- Therapeutic interventions: Researchers are currently investigating the use of gene therapy interventions. Other interventions, such as lifelong dietary treatment, have been studied in the past and continue to be of interest.
- Psychosocial issues: Researchers have developed multiple studies in this area. Recently, they explored issues such as family adaptation to a PKU diagnosis.
- Pathophysiology: Scientists are exploring processes and metabolism as they relate to brain functioning in PKU and other disorders.