phenylketonuria

[ fen-l-kee-toh-noor-ee-uh, -nyoor-, feen- ]
/ ˌfɛn lˌki toʊˈnʊər i ə, -ˈnyʊər-, ˌfin- /

noun Pathology.

an inherited disease due to faulty metabolism of phenylalanine, characterized by phenylketones in the urine and usually first noted by signs of mental retardation in infancy.

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Origin of phenylketonuria

From New Latin, dating back to 1930–35; see origin at phenyl, ketone, -uria

OTHER WORDS FROM phenylketonuria

phen·yl·ke·to·nu·ric, adjective
Dictionary.com Unabridged Based on the Random House Unabridged Dictionary, © Random House, Inc. 2021

British Dictionary definitions for phenylketonuria

phenylketonuria
/ (ˌfiːnaɪlˌkiːtəˈnjʊərɪə) /

noun

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

Word Origin for 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

Medical definitions for phenylketonuria

phenylketonuria
[ fĕn′əl-kēt′n-urē-ə, fē′nəl- ]

n.

A genetic disorder in which the body lacks the enzyme necessary to metabolize phenylalanine to tyrosine. Left 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® Stedman's Medical Dictionary Copyright © 2002, 2001, 1995 by Houghton Mifflin Company. Published by Houghton Mifflin Company.

Scientific definitions for phenylketonuria

phenylketonuria
[ fĕn′əl-kēt′n-urē-ə, fē′nəl- ]

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

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.