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Phenylketonuria (PKU): NICHD Research Goals

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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.
Last Updated Date: 11/30/2012
Last Reviewed Date: 08/23/2013