phenylketonuria Syllabification: (phen·yl·ke·to·nu·ri·a)Pronunciation: /ˌfenlˌkētōˈn(y)o͝orēə, ˌfēnl-/ (abbreviation: PKU)Definition of phenylketonuria noun Medicine an inherited inability to metabolize phenylalanine that causes brain and nerve damage if untreated. phenylketonuria in other Oxford dictionaries Definition of phenylketonuria in the British & World English dictionary