When does the USPSTF recommend screening for phenylketonuria?

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The United States Preventive Services Task Force (USPSTF) recommends screening for phenylketonuria (PKU) at birth. This early screening is crucial because PKU is a genetic disorder that can lead to intellectual disability and other serious health problems if not detected and treated early. The initial newborn screening tests are designed to identify various metabolic conditions, including PKU, so that appropriate dietary interventions can be initiated as soon as possible to prevent the development of symptoms.

Screening at birth allows for immediate support and treatment, significantly improving outcomes for affected individuals. Delaying screening until later periods, such as 6 months, 1 year, or 3 years, would increase the risk of irreversible damage and complications that could have been prevented with early diagnosis and management. Therefore, the optimal time to screen for PKU is indeed at birth.

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