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Phenylketonuria Over Time: What We’re Learning from a Natural History Study
Phenylketonuria (PKU) is a genetic metabolic disorder that increases the body's levels of the amino acid phenylalanine. People with PKU cannot properly break down the extra phenylalanine in the food they eat, which allows it to build up in the person's blood, urine, and body. When left untreated, phenylalanine can build up to harmful levels.
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