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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
- 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
- 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) 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
- NICHD Phenylketonuria (PKU) Research Information
The institute was heavily involved in the 2000 NIH Consensus Development Conference on Phenylketonuria, which first developed the guidelines; now NICHD researchers and other experts are updating them to include recent scientific advances Information about the 2012 update meetings is available at in an article from Molecular Genes and Metabolism
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