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PKU Primer for Adolescents and Adults

Phenylketonuria (PKU) is a metabolic disorder that affects the way the body processes an amino acid called phenylalanine. Individuals with PKU have a deficiency of an enzyme called phenylalanine hydroxylase, which is responsible for breaking down phenylalanine into other substances that the body can use.

What is PKU?

PKU is a genetic disorder that is usually diagnosed shortly after birth through newborn screening tests. It is estimated that approximately 1 in every 10,000 to 15,000 newborns in the United States is affected by PKU. While the severity of the condition can vary from person to person, if left untreated, PKU can lead to intellectual disability and other serious health problems.

Living with PKU

Living with PKU requires careful management of diet and monitoring of phenylalanine levels in the blood. Individuals with PKU need to follow a special diet that restricts the intake of foods and beverages that are high in phenylalanine. This means avoiding foods such as meat, fish, eggs, dairy products, and certain fruits and vegetables.

PKU Diet

The PKU diet consists mainly of low-protein foods and a special medical formula that is low in phenylalanine. This formula helps individuals with PKU meet their nutritional needs without consuming excess phenylalanine. The diet also includes foods that are specially formulated to be low in phenylalanine, such as bread, pasta, and snacks.

In addition to carefully following the PKU diet, individuals with PKU may also need to take a prescription medication called sapropterin dihydrochloride. This medication helps some individuals with PKU to better metabolize phenylalanine, allowing them to have a less restrictive diet.

Managing PKU as an Adolescent or Adult

Living with PKU as an adolescent or adult can present unique challenges. It is important to have a strong support system in place, including healthcare professionals who specialize in metabolic disorders and dieticians who can help create personalized meal plans. Regular monitoring of phenylalanine levels in the blood is also essential to ensure that the PKU diet is effectively managing the condition.

It is important for individuals with PKU to stay informed about new research and developments in PKU treatment and management. Advances in medical technology and research have led to improved understanding and treatment of PKU, and individuals with PKU can benefit from staying up to date with the latest information.

In Conclusion

PKU is a lifelong condition that requires strict management of diet and regular monitoring of phenylalanine levels in the blood. With the right support and resources, individuals with PKU can live healthy and fulfilling lives. By following the PKU diet, working closely with healthcare professionals, and staying informed about the latest research, individuals with PKU can effectively manage their condition and achieve their goals.

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