phenylketonuria

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phenylketonuria

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


Origin:
1930–35; < Neo-Latin; see phenyl, ketone, -uria

phenylketonuric, adjective
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World English Dictionary
phenylketonuria (ˌfiːnaɪlˌkiːtəˈnjʊərɪə)
 
n
a congenital metabolic disorder characterized by the abnormal accumulation of phenylalanine in the body fluids, resulting in various degrees of mental deficiency
 
[C20: New Latin; see phenyl, ketone, -uria]

Collins English Dictionary - Complete & Unabridged 10th Edition
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American Heritage
Medical Dictionary

phenylketonuria phen·yl·ke·to·nu·ri·a (fěn'əl-kēt'n-ur'ē-ə, -yur'-, fē'nəl-)
n.

Abbr. PKU 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.
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American Heritage
Science Dictionary
phenylketonuria   (fěn'əl-kēt'n-r'ē-ə, fē'nəl-)  Pronunciation Key 
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 © 2002. Published by Houghton Mifflin. All rights reserved.
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American Heritage
Cultural Dictionary
phenylketonuria (PKU) [(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.

Note: States commonly require newborns to be tested for PKU.
The American Heritage® New Dictionary of Cultural Literacy, Third Edition
Copyright © 2005 by Houghton Mifflin Company.
Published by Houghton Mifflin Company. All rights reserved.
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Example sentences for phenylketonuria
Treatment for depression and the neurological problems of phenylketonuria.
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