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Home > Terms > English, UK (UE) > Phenylketonuria (PKU)
Phenylketonuria (PKU)
A genetic disease, inherited as a recessive, brought about by the absence of the enzyme responsible for the conversion of the amino acid phenylalanine to tyrosine. Phenylalanine accumulates in the blood and then breaks down into by-products that cause severe mental retardation in addition to other symptoms.
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