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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 Reviewed: 08/23/2013
Vision National Institutes of Health Home BOND National Institues of Health Home Home Storz Lab: Section on Environmental Gene Regulation Home Machner Lab: Unit on Microbial Pathogenesis Home Division of Intramural Population Health Research Home Bonifacino Lab: Section on Intracellular Protein Trafficking Home Lilly Lab: Section on Gamete Development Home Lippincott-Schwartz Lab: Section on Organelle Biology