Phenylketonuria (PKU) - NICHD - Eunice Kennedy Shriver National ...
2023年12月21日 · 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 causes phenylketonuria (PKU)? | NICHD - NICHD - Eunice …
When this gene, known as the PAH gene, is defective, the body cannot break down phenylalanine. Amino acids help build protein, but phenylalanine can cause harm when it builds up in a person’s body. In particular, nerve cells in the brain are sensitive to phenylalanine. Many different PAH mutations result in problems with breaking down ...
What are common treatments for phenylketonuria (PKU)?
2023年12月21日 · The amount of phenylalanine that is safe to consume differs for each person. Therefore, a person with PKU needs to work with a health care professional to develop an individualized diet. The goal is to eat only the amount of phenylalanine necessary for healthy growth and body processes but not any extra.
How do health care providers diagnose phenylketonuria (PKU)?
2012年6月22日 · The blood sample, which can be used to screen for other conditions as well, is tested in a laboratory to determine whether it has too much phenylalanine in it. The newborn screening test should be performed by the child’s pediatrician if the mother did not give birth in a hospital or is discharged from the hospital before the test is performed.
Other Phenylketonuria (PKU) FAQs | NICHD - NICHD - Eunice …
2012年5月15日 · The disease-causing mutations must have been identified before prenatal testing can be performed. Testing Possible PKU Carriers If a child is diagnosed with PKU, other family members may be more likely to conceive children who also will have PKU. 1 The parents’ siblings and other close blood relatives should be told that the child has PKU so ...
Phenylketonuria: Paradigm for a Treatable Genetic Disease...?
The disease has “a cause.” The ultimate cause is phenotype-modifying allelic variation in the phenylalanine hydroxylase gene (symbol PAH); the proximate cause is dietary intake of the essential amino acid L-Phe. Pathogenesis of PKU “disease” has …
If phenylketonuria (PKU) is not treated, what problems occur?
2023年12月21日 · Pregnant people 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 ...
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Maternal PKU:Restarting & Monitoring Diet Before & During …
By Kimberlee Michals, Ph.D., R.D., L.D. Discontinuation of the phenylalanine (Phe)-restricted diet at the age of 6 was standard policy for patients with phenylketonuria (PKU) for many years before the National Collaborative Study for PKU began an investigation of whether that was the right approach (Williamson, Dobson, Koch, 1977).
Phenylketonuria (PKU) and Newborn Screening - NICHD
2017年12月30日 · 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 …
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