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- Phenylketonuria (PKU) - NICHD - Eunice Kennedy Shriver National . . .
Phenylketonuria, often called PKU, is an inherited disorder that can cause intellectual and developmental disabilities (IDDs) if not treated
- 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
- What are common treatments for phenylketonuria (PKU)?
What are common treatments for phenylketonuria (PKU)? En Español 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
- What causes phenylketonuria (PKU)? | NICHD - NICHD - Eunice Kennedy . . .
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 n
- 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
- Other Phenylketonuria (PKU) FAQs | NICHD - NICHD - Eunice Kennedy . . .
A blood sample can be used to test for the mutations that cause PKU Testing an Infant A blood test that measures the phenylalanine in an infant’s blood is enough to help make a PKU diagnosis
- 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
- Phenylketonuria (PKU) Resources | NICHD - NICHD - Eunice Kennedy . . .
Phenylketonuria This 2010 Lancet article addresses such topics as PKU’s epidemiology, pathophysiology, and treatment options Screening for Phenylketonuria (PKU): U S Preventive Services Task Force Reaffirmation Recommendation This statement, updated in 2008, outlines the task force’s recommendation on PKU screening
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