[ fen-l-kee-toh-noor-ee-uh, -nyoor-, feen- ]

  1. an inherited disease due to faulty metabolism of phenylalanine, characterized by phenyl ketones in the urine and usually first noted by signs of intellectual disability in infancy.

Origin of phenylketonuria

First recorded in 1930–35; from New Latin; see origin at phenyl, ketone, -uria

Other words from phenylketonuria

  • phen·yl·ke·to·nu·ric, adjective

Words Nearby phenylketonuria Unabridged Based on the Random House Unabridged Dictionary, © Random House, Inc. 2023

British Dictionary definitions for phenylketonuria


/ (ˌfiːnaɪlˌkiːtəˈnjʊərɪə) /

  1. a congenital metabolic disorder characterized by the abnormal accumulation of phenylalanine in the body fluids, resulting in various degrees of mental deficiency

Origin of phenylketonuria

C20: New Latin; see phenyl, ketone, -uria

Collins English Dictionary - Complete & Unabridged 2012 Digital Edition © William Collins Sons & Co. Ltd. 1979, 1986 © HarperCollins Publishers 1998, 2000, 2003, 2005, 2006, 2007, 2009, 2012

Scientific definitions for phenylketonuria


[ fĕn′əl-kēt′n-urē-ə, fē′nəl- ]

  1. A genetic disorder in which the body lacks an enzyme necessary to metabolize phenylalanine to tyrosine. If untreated, the disorder can cause brain damage and progressive mental retardation as a result of the accumulation of phenylalanine and its breakdown products.

The American Heritage® Science Dictionary Copyright © 2011. Published by Houghton Mifflin Harcourt Publishing Company. All rights reserved.

Cultural definitions for phenylketonuria


[ (fen-l-keet-n-oor-ee-uh) ]

A hereditary disease that prevents the proper metabolism of phenylalanine, an amino acid. When phenylalanine is not metabolized properly, poisonous substances can build up in the body, causing brain damage and mental retardation. The effects of PKU can be controlled by a special diet.

Notes for phenylketonuria

States commonly require newborns to be tested for PKU.

The New Dictionary of Cultural Literacy, Third Edition Copyright © 2005 by Houghton Mifflin Harcourt Publishing Company. Published by Houghton Mifflin Harcourt Publishing Company. All rights reserved.