2012年6月22日 · Newborn Screening for PKU. All 50 U.S. states and territories require that newborns get screened for PKU. In addition to the United States, many other countries routinely screen infants for PKU. 1. Before screening for PKU was possible, most infants with the disorder developed severe intellectual and developmental disabilities (IDDs).

2017年12月30日 · Effective, Low-Cost Screening of Newborns Eliminates a Major Cause of Intellectual Disability In 1934, Norwegian doctor Asbjörn Fölling discovered phenylketonuria (PKU), a rare disease that, if left untreated in newborns, causes intellectual disability, seizures, and deafness. In 1939, research showed that PKU was an inherited disorder that resulted from …

2012年5月15日 · Newborn Screening for PKU. All 50 U.S. states and territories require that newborns get screened for PKU. In addition to the United States, many other countries routinely screen infants for PKU. 1. Before screening for PKU was possible, most infants with the disorder developed severe intellectual and developmental disabilities (IDDs).

2017年4月3日 · PKU (pronounced fee-nill-key-toe-NURR-ee-uh) is a metabolic disorder that is detected by newborn screening. In PKU, the body cannot digest or process one of the building blocks of proteins, an amino acid called phenylalanine (pronounced fen-l-AL-uh-neen), or Phe (pronounced fee). Phe is found naturally in many foods, especially high-protein foods.

Methodological approaches vary widely among the studies. All published studies, however, find that PKU screening and treatment represent a net direct cost savings to society, although the analyses assume 100 percent compliance, and typically exclude the costs of operating data systems and followup components of a newborn screening program. 3.

2024年5月1日 · Screening and Management: In 2000, the NIH Consensus Development Conference on Phenylketonuria, sponsored by NICHD and other agencies and organizations, released a statement on screening and dietary recommendations for PKU. The report addresses such topics as the best strategies for lifelong disease management and future research needs.

Newborn screening for PKU began in 1961 and initial results were reported two years later by Guthrie and Susi (1963). In the first 2 years, 400,000 infants were tested in 29 states and 39 cases of PKU were found--an incidence of about 1 per 10,000.

2012年5月15日 · If a child is diagnosed with PKU, other family members may be more likely to conceive children who also will have PKU. 1 The parents’ siblings and other close blood relatives should be told that the child has PKU so that they can …

2023年12月21日 · PKU has no cure, but treatment can prevent intellectual disabilities and other health problems. 1 A person with PKU should receive treatment at a medical center that specializes in the disorder. (Visit the Resources section for ways to locate a center.) The PKU Diet. People with PKU need to follow a diet that limits foods with phenylalanine.

In terms of PKU screening, these concerns are most germane in the context of TMS, through which additional diseases could be screened for, simultaneous with PKU. In an editorial to the American Journal of Public Health in 1997, Holtzman addresses this issue of rapidly expanding genetic screening programs.