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pku

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1. a genetic disorder of metabolism; lack of the enzyme needed to turn phenylalanine into tyrosine results in an accumulation of phenylalanine in the body fluids which causes various degrees of mental deficiency (noun.state)
:inborn error of metabolism,
definition:any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism (noun.state)

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