Which of the following is true of phenylketonuria?
Here at Boston Children’s Hospital, our multidisciplinary team is ready to help you and your child with the challenges of having phenylketonuria(PKU). Learning more about PKU will help your child and whole family learn to live a healthy, active life with PKU. What is PKU? PKU is a genetically inherited metabolic disorder in which the body lacks the enzyme, phenylalanine hydroxylase (PAH), which is responsible for metabolizing the amino acid
called phenylalanine. PAH normally breaks down phenylalanine into another amino acid called tyrosine. In people with PKU, phenylalanine builds up in the blood and then crosses into the brain, where it is toxic and causes damage. Will my child be OK? What are the risks if it’s not treated right away? If PKU is not treated early in infancy, there is a high risk the child will develop intellectual disabilities. The longer the child goes untreated, the higher the risk. Is it curable? What kinds of diets do children with PKU need to
adopt? PKU is caused by the body’s inability to metabolize phenylalanine, which is found in high protein foods such as poultry, meat, eggs and dairy products. The PKU diet includes foods that are low in protein, such as fruits and vegetables, as well as low protein products made especially for people with PKU, such as low protein bread and pasta. A special medical food that contains other amino acids but no phenylalanine is a critical part of the PKU diet. Is there a medication that may help children with PKU? The PAH enzyme that changes phenylalanine to tyrosine uses a biochemical co-factor called BH4, which helps the PAH enzyme make this change. Some children with PKU who are on a diet may benefit from a medication form of BH4, called Kuvan, which can lower phenylalanine levels in the blood, and may allow a patient to eat more natural sources or protein. Your child might be prescribed Kuvan to determine if it will make the diet easier. How common is PKU? About one in every 15,000 babies in the United States is born with PKU. Who is at risk for PKU? PKU is present in almost all societies but is very rare among those of African-American heritage and certain Asian countries (e.g., Japan, Thailand, Korea). Those of Irish heritage as well as those with Turkish background have the highest risk.. Signs and symptomsThe signs and symptoms of PKU are not apparent at birth, but babies with PKU do show signs within a few months. Before signs are apparent, however, the brain may already be damaged, so treatment needs to begin during the first weeks of life before this happens Symptoms of PKU can include:
Do symptoms go away after treatment? If treatment is administered within the first few weeks after birth, there should be no symptoms if the diet that is prescribed is strictly followed. Symptoms might develop if the patient stops following the diet.
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