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In people with Phenylketonuria (PKU), the compound that accumulates in the blood is phenylalanine. This occurs due to a deficiency in the enzyme phenylalanine hydroxylase, which is responsible for converting phenylalanine into tyrosine. Elevated levels of phenylalanine can lead to serious neurological issues if not managed through dietary restrictions. Early detection and treatment are crucial to prevent cognitive impairments associated with PKU.

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