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Phenylketonuria (PKU) is a metabolic disorder that affects around 1 in every 10,000 to 15,000 newborns in the United States. PKU is caused by the lack of an enzyme called phenylalanine hydroxylase, which is responsible for breaking down an amino acid called phenylalanine. As a result, phenylalanine builds up in the body and can cause severe intellectual disability and other health issues if not treated. Effective management of PKU requires a lifelong low-phenylalanine diet, which means avoiding high-protein foods such as meat, fish, eggs, and dairy products. Instead, people with PKU need to consume special protein substitutes and food products that are low in phenylalanine. It can be challenging to follow a low-phenylalanine diet, and strict adherence is crucial to prevent complications. Fortunately, advances in PKU treatment have led to the development of pharmacological therapies that aim to increase phenylalanine tolerance and ease the burden of dietary restrictions. One such therapy is sapropterin dihydrochloride (Kuvan®), a medication that can help some people with PKU to metabolize phenylalanine more efficiently. Kuvan® is not a cure for PKU but can help individuals consume a less stringent diet. Aside from pharmacological therapies, PKU management can involve psychological and social support to help individuals and families cope with the condition’s challenges. Approaches such as cognitive-behavioral therapy, family therapy, and support groups can provide emotional and practical support to manage daily life with PKU. It is essential to diagnose PKU early to start treatment promptly and prevent intellectual disability and other complications. Newborn screening for PKU is mandatory in all U.S. states, and infants who test positive for the condition can receive prompt interventions. However, in some cases, PKU may have been undiagnosed until later in life, making diagnosis and treatment more challenging. In conclusion, PKU is a rare metabolic disorder that can have severe consequences if left untreated. A low-phenylalanine diet is the cornerstone of PKU management, but pharmacological therapies and psychological support can also play a role. Early diagnosis and prompt interventions are essential to prevent complications and improve outcomes for individuals with PKU. If you or someone you know has PKU, it is crucial to work closely with healthcare providers to manage the condition effectively.
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