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- Phenylketonuria (PKU) | NICHD - Eunice Kennedy Shriver National . . .
Classic PKU is caused by a complete or near-complete deficiency of PAH All children born in U S hospitals are screened routinely for PKU soon after birth, making it easier to diagnose and treat affected children early And pregnant women may request prenatal testing to determine if their fetus is at risk for PKU
- Phenylketonuria (PKU) - NICHD - Eunice Kennedy Shriver National . . .
Pregnant women with PKU who do not strictly follow a low-phenylalanine diet may give birth to a child with serious problems, including IDDs, a head that is too small (microcephaly), heart defects, and low birth weight 5 Read more about maternal PKU Women with PKU and uncontrolled phenylalanine levels also have an increased risk of pregnancy
- 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
- What causes phenylketonuria (PKU)? | NICHD - NICHD - Eunice Kennedy . . .
If both parents have PKU, their child will have PKU as well Sometimes, a parent does not have PKU but is a carrier, which means the parent carries a mutated PAH gene If only one parent carries the mutated gene, the child will not develop PKU Even if both parents carry the mutated PAH gene, their child still
- Phenylketonuria (PKU) Resources | NICHD - NICHD - Eunice Kennedy . . .
This is a network of individuals and families affected by PKU National PKU Alliance The alliance is a lay advocacy organization that advances PKU research, supports local PKU organizations, and raises awareness about PKU Please note: Links to organizations and information included on this page do not indicate endorsement from NICHD, NIH, or HHS
- How do health care providers diagnose phenylketonuria (PKU)?
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)
- NICHD Phenylketonuria (PKU) Research Information
NICHD’s PKU-related portfolio is maintained largely through the Intellectual and Developmental Disabilities Branch (IDDB) The institute supports diverse projects, including research on pregnancy and PKU, gene therapy, improved screening, and pathophysiology of the disorder Institute Activities and Advances
- Other Phenylketonuria (PKU) FAQs | NICHD - NICHD - Eunice Kennedy . . .
Maternal PKU is the term used when a woman who has PKU becomes pregnant Most children born to mothers with PKU do not have the disorder But if a pregnant woman who has PKU does not strictly follow a low-phenylalanine diet, her child can develop serious problems
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