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Phenylketonuria, commonly known as PKU, is a genetic disorder that affects the way the body processes the amino acid phenylalanine. Normally, a healthy body can break down phenylalanine into other amino acids that are necessary for growth and development. However, people with PKU are unable to do so, resulting in the buildup of phenylalanine in their blood. This can lead to serious health problems if left untreated. PKU is a rare disorder that affects about 1 in every 10,000 to 15,000 births in the United States. It is typically diagnosed shortly after birth through newborn screening, which is a routine test that checks for several different genetic disorders. If left untreated, PKU can cause intellectual disability, seizures, behavioral problems, and other health issues. Fortunately, PKU can be managed through a special diet that is low in phenylalanine. This means avoiding foods that are high in protein, such as meat, fish, eggs, and dairy products. Instead, people with PKU must consume special formulas and foods that are specially designed to be low in phenylalanine. This can be challenging, but it is essential for maintaining good health and preventing complications. In addition to the diet, people with PKU may also need to take special supplements and medications to ensure that their bodies are getting all of the nutrients they need. They may also need to visit a specialist regularly to monitor their health and adjust their treatment plan as needed. Despite the challenges of living with PKU, many people are able to lead happy and healthy lives with proper management and support. With early diagnosis and treatment, the risk of complications can be greatly reduced. It is important for parents to be aware of the importance of newborn screening and to follow up with their healthcare provider if their child tests positive for PKU. If you or someone you know has been diagnosed with PKU, it is important to work closely with a healthcare provider who has experience managing this condition. With the right care and support, it is possible to live a full and healthy life with PKU.

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