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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)?
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
- What causes phenylketonuria (PKU)? | NICHD - NICHD - Eunice Kennedy . . .
PKU is caused by mutations in the gene that helps make an enzyme called phenylalanine hydroxylase
- Phenylketonuria (PKU) and Newborn Screening | NICHD - Eunice Kennedy . . .
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
- How do health care providers diagnose phenylketonuria (PKU)?
What if my newborn tests positive for PKU? If your newborn’s screening test comes back positive for PKU, your child will need additional tests to confirm that they definitely have the disorder It is very important to follow your health care providers’ instructions for further tests
- 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
- NICHD Phenylketonuria (PKU) Research Information
NICHD supports and conducts research on a wide range of topics related to PKU and other metabolic disorders Research areas include newborn screening, healthy fetal development in pregnant women with PKU, and the pathophysiology of PKU-related IDDs Key NICHD research issues include the following: Newborn screening: Efforts focus on making improvements to screening technology, supporting
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