What does phenylketonuria mean?
• PHENYLKETONURIA (noun) The noun PHENYLKETONURIA has 1 sense: 1. 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 Familiarity information: PHENYLKETONURIA used as a noun is very rare.