HyperDic: phenylketonuria

English > 1 sense of the word phenylketonuria:
NOUNstatephenylketonuria, PKUa genetic disorder of metabolism
English > phenylketonuria: 1 sense > noun 1, state
MeaningA 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.
SynonymPKU
Broaderinborn error of metabolismAny of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism
Spanishfenilcetonuria
Catalanfenilcetonúria

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