Definitions of PKU
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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
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synonyms:
phenylketonuria
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type of:
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inborn error of metabolism
any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism
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inborn error of metabolism
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