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Phenylketonuria (PKU) is a genetic disorder that affects around 1 in 10,000 to 15,000 newborn babies in the United States. This disorder, which is caused by a defect in the gene that helps create the enzyme needed to break down phenylalanine (an amino acid found in many foods), can lead to severe intellectual disability if left untreated. That is why it is essential to diagnose and manage PKU as early as possible. Individuals with PKU are unable to properly metabolize phenylalanine, which causes a buildup of this amino acid in their blood. This buildup can lead to several health problems, including intellectual disability, seizures, behavioral problems, and skin disorders. Fortunately, a PKU diagnosis can be made through newborn screening, which is required in all fifty U.S. states. Once diagnosed, individuals with PKU must follow a strict low-phenylalanine diet for life to prevent cognitive impairment and other health problems. Sticking to a low-phenylalanine diet can be challenging, as many common foods contain the amino acid. That’s why individuals with PKU must work closely with a registered dietitian who specializes in the disease to develop an individualized eating plan. This plan may include specially formulated medical foods that are low in phenylalanine and supplements to ensure proper nutrition. It’s worth noting that while PKU is a lifelong disorder, new research is continuously being conducted to explore potential treatments and therapies. One such therapy is gene therapy, which aims to insert a healthy copy of the defective gene into the patient’s DNA. While gene therapy is still in the experimental stages, studies have shown promise in restoring the ability to properly metabolize phenylalanine in individuals with PKU. In conclusion, PKU is a rare but serious genetic disorder that can cause significant health problems if not diagnosed and managed early. Individuals with PKU must follow a strict low-phenylalanine diet for life and work closely with a registered dietitian to ensure proper nutrition. While PKU is a lifelong condition, ongoing research gives hope that new treatments and therapies may one day alleviate its symptoms.

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What Does PKU Stand For?

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