What condition can phenylketonuria (PKU) lead to if not detected early?

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Phenylketonuria (PKU) is a metabolic disorder that results from a deficiency in the enzyme phenylalanine hydroxylase, which is essential for the conversion of phenylalanine—a type of amino acid—into tyrosine. If PKU is not detected and managed early, the accumulated phenylalanine can become toxic to the brain. This toxicity can lead to severe neurological damage and significantly increase the risk of developing intellectual disability.

Early detection through newborn screening allows for dietary interventions that can lower phenylalanine levels, thereby preventing the detrimental effects on brain development and cognitive function. Consequently, individuals with PKU who maintain a low-phenylalanine diet typically do not experience intellectual disabilities and can develop normally.

The other conditions listed—cancer, heart disease, and diabetes—are not directly related to PKU and would not result from the accumulation of phenylalanine, thereby highlighting the importance of early detection and management in preventing the specific consequence of intellectual disability associated with this condition.