Which condition is monitored through newborn screening for early detection?

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Phenylketonuria (PKU) is indeed one of the conditions monitored through newborn screening for early detection. This genetic disorder results from a deficiency in the enzyme phenylalanine hydroxylase, leading to an accumulation of phenylalanine in the blood, which can cause severe intellectual disability and other neurological problems if not identified and managed early. Newborn screening programs routinely include PKU testing to allow for early dietary interventions that can prevent these serious complications, emphasizing the significance of timely detection right after birth.

While conditions like cystic fibrosis are also screened for, the specific question aims to identify the particular focus of newborn screenings, where PKU has been a foundational element of such programs. Diabetes and hypertension, on the other hand, are typically conditions managed in older children or adults and are not part of routine newborn screening protocols.

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