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A rare inherited condition that causes an amino acid called phenylalanine to build up in the body.

Phenylketonuria (PKU) is a rare inherited condition that causes an amino acid called phenylalanine to build up in the body. Newborns are screened for PKU.

Untreated PKU can lead to brain damage, intellectual disability, behavioral symptoms, or nervous system problems that may include seizures.

Treatment includes a strict diet that limits protein.