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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
- 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 are common treatments for phenylketonuria (PKU)?
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
- 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
- Phenylketonuria (PKU) Resources | NICHD - NICHD - Eunice Kennedy . . .
Maternal Phenylketonuria International Study This article, which appeared in Pediatrics in 2003, reviews health outcomes for women and their children based on an 18-year study on the efficacy of a phenylalanine-restricted diet in preventing the morbidity associated with maternal PKU
- Other Phenylketonuria (PKU) FAQs | NICHD - NICHD - Eunice Kennedy . . .
Other Phenylketonuria (PKU) FAQs Basic information for topics, such as “What is it?” is available in the About Phenylketonuria (PKU) section Answers to other frequently asked questions (FAQs) specific to PKU are in this section
- Phenylketonuria (PKU) and Newborn Screening - NICHD
Phenylketonuria (PKU) and Newborn Screening 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
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