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  • Phenylketonuria (PKU) - NICHD - Eunice Kennedy Shriver National . . .
    Phenylketonuria, often called PKU, is caused by phenylalanine hydroxylase (PAH) deficiency It is an inherited disorder that can cause intellectual and developmental disabilities (IDDs) if not treated In PKU, the body can’t process a portion of a protein called phenylalanine, which is in all foods containing protein High levels of phenylalanine can cause brain damage PAH deficiency
  • What are common treatments for phenylketonuria (PKU)?
    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 The diet should be followed carefully and be started
  • Phenylketonuria (PKU) | NICHD - Eunice Kennedy Shriver National . . .
    Phenylketonuria (PKU) is an inherited disorder that can cause intellectual and developmental disabilities (IDDs) if not treated
  • What causes phenylketonuria (PKU)? | NICHD - NICHD - Eunice Kennedy . . .
    What causes phenylketonuria (PKU)? PKU is caused by mutations in the gene that helps make an enzyme called phenylalanine hydroxylase, or PAH This enzyme is needed to convert the amino acid phenylalanine into other substances the body needs When this gene, known as the PAH gene, is defective, the body cannot break down phenylalanine
  • How do health care providers diagnose phenylketonuria (PKU)?
    How do health care providers diagnose phenylketonuria (PKU)? Nearly all cases of PKU are diagnosed through a blood test done on newborns 1 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
  • NIH Consensus Statement - NICHD - Eunice Kennedy Shriver National . . .
    The content in this publication was accurate at the time it was published, but it is not being updated The item is provided for historical purposes only National Institutes of Health Consensus Development Conference Statement Phenylketonuria: Screening and Management
  • Phenylketonuria (PKU) Resources | NICHD - NICHD - Eunice Kennedy . . .
    The PKU entry in OMIM, which is an online catalog of human genes and genetic disorders published by Johns Hopkins University School of Medicine, covers clinical management, population genetics, and other topics related to PKU Orphanet This international website maintains, updates, and develops information about rare diseases and orphan drugs
  • Phenylketonuria (PKU) and Newborn Screening - NICHD
    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 the body's inability to break down
  • Other Phenylketonuria (PKU) FAQs | NICHD - NICHD - Eunice Kennedy . . .
    Find answers to other common questions about PKU, such as whether genetic testing is available and how maternal PKU affects pregnancy
  • What disorders are newborns screened for in the United States?
    PKU was the first condition for which a screening test was developed, and the first condition for which widespread newborn testing was implemented in the 1960s If PKU is left untreated, the Phe builds up in the body and brain By 3 to 6 months of age, infants with untreated PKU begin to show symptoms of intellectual and developmental disability





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