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.
- Also called phenylpyruvic oligophrenia .
- phen·yl·ke·to·nu·ric, adjective
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British Dictionary definitions for phenylketonuria
a congenital metabolic disorder characterized by the abnormal accumulation of phenylalanine in the body fluids, resulting in various degrees of mental deficiency
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
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
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.