phenylketonuria (HyperDic hyper-dictionary)

English > 1 sense of the word *phenylketonuria*:
NOUN	state	phenylketonuria, PKU	a genetic disorder of metabolism

English > *phenylketonuria*: 1 sense > noun 1, state
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.
Synonym	PKU
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

HyperDic: phenylketonuria