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Phenylketonuria (PKU) is a genetic disorder that affects around 1 in 10,000 to 15,000 newborns. It occurs when the body is unable to break down an amino acid called phenylalanine, which is found in protein-containing foods such as dairy, meat, and fish. This buildup of phenylalanine in the blood can cause brain damage, intellectual disability, and other neurological problems if left untreated.
Symptoms
The symptoms of PKU vary depending on the severity of the condition. Babies with severe PKU may show signs of intellectual disability, seizures, and behavioral problems within the first few months of life. Children and adults with milder forms of PKU may experience learning difficulties, attention problems, and mood disorders.
Diagnosis
Prenatal diagnosis of PKU can be done through genetic testing. After birth, a simple, non-invasive blood test can be used to screen for PKU. If the test is positive, further diagnostic tests such as a urine test or genetic testing may be done to confirm the diagnosis.
Treatment
The most effective treatment for PKU is a strict, lifelong diet that restricts foods high in phenylalanine. This includes avoiding foods such as meat, dairy, and fish, and consuming medical foods that are low in phenylalanine. A PKU dietitian can help create a personalized meal plan and monitor the individual’s phenylalanine levels. In some cases, medication may also be used to help reduce blood phenylalanine levels.
If left untreated, PKU can lead to severe neurological problems and intellectual disability. Early detection and treatment are crucial in order to prevent these complications and ensure the best possible outcome for individuals with PKU. It is important for individuals with PKU to work closely with their healthcare team and adhere to their treatment plan in order to maintain good health and prevent long-term complications.
Overall, PKU is a serious but manageable genetic disorder that requires lifelong treatment and monitoring. With proper treatment, individuals with PKU can lead healthy, normal lives and achieve their full potential.
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