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phenylketonuria

DEFINITIONS OF: phenylketonuria

1

n 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

Synonyms:
PKU
Type of:
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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