phenylketonuria

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Related to Deficiency disease, Phenylalanine Hydroxylase: Tyrosine hydroxylase

phen·yl·ke·to·nu·ri·a

 (fĕn′əl-kēt′n-o͝or′ē-ə, -yo͝or′-, 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 intellectual disability as a result of the accumulation of phenylalanine and its breakdown products.

[phenylketone, the class of organic compounds including phenylpyruvic acid, a breakdown product of phenylalanine that is abnormally abundant in the urine of those having the disorder (phenyl + ketone) + ur(o)- + -ia.]

phen′yl·ke′to·nu′ric adj. & n.
American Heritage® Dictionary of the English Language, Fifth Edition. Copyright © 2016 by Houghton Mifflin Harcourt Publishing Company. Published by Houghton Mifflin Harcourt Publishing Company. All rights reserved.

phenylketonuria

(ˌfiːnaɪlˌkiːtəˈnjʊərɪə)
n
(Pathology) 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 and Unabridged, 12th Edition 2014 © HarperCollins Publishers 1991, 1994, 1998, 2000, 2003, 2006, 2007, 2009, 2011, 2014

phen•yl•ke•to•nu•ri•a

(ˌfɛn lˌki toʊˈnʊər i ə, -ˈnyʊər-, ˌfin-)

n.
an inherited defect of the ability to metabolize phenylalanine, requiring a diet free of or low in phenylalanine to avoid eczema, mental retardation, and other effects.
[1935]
Random House Kernerman Webster's College Dictionary, © 2010 K Dictionaries Ltd. Copyright 2005, 1997, 1991 by Random House, Inc. All rights reserved.
ThesaurusAntonymsRelated WordsSynonymsLegend:
Noun1.phenylketonuria - 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
inborn error of metabolism - any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism
Based on WordNet 3.0, Farlex clipart collection. © 2003-2012 Princeton University, Farlex Inc.
Translations

phen·yl·ke·to·nu·ri·a

[MIM*261600]
n. fenilquetonuria, trastorno metabólico genético que puede causar una deficiencia mental.
English-Spanish Medical Dictionary © Farlex 2012

phenylketonuria (PKU)

n fenilcetonuria
English-Spanish/Spanish-English Medical Dictionary Copyright © 2006 by The McGraw-Hill Companies, Inc. All rights reserved.