| NOUN | state | PKU, phenylketonuria | a genetic disorder of metabolism |
|---|
| Meaning | 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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| Synonym | phenylketonuria | |
| Broader | 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 |
| Spanish | fenilcetonuria | |
| Catalan | fenilcetonúria | |
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