Definitions
from The American Heritage® Dictionary of the English Language, 5th Edition.
- noun 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.
from Wiktionary, Creative Commons Attribution/Share-Alike License.
- noun medicine A
metabolic disorder in which individuals lack theliver enzyme phenylalanine hydroxylase (PAH ) which is needed tometabolize theamino acid phenylalanine .
from WordNet 3.0 Copyright 2006 by Princeton University. All rights reserved.
- noun 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
Etymologies
from Wiktionary, Creative Commons Attribution/Share-Alike License
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Examples
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In terms of biochemical genetics, the consequences of a metabolic block may be rectified by dietary limitation of the precursor of an injurious accumulation product, aromatic amino acids in phenylketonuria; or by supplying the essential end product from without the cell, the specific blood protein in hemophilia, or a specific essential nutrient molecule such as a vitamin.
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Virtually the only people who cannot consume the artificial sweetener aspartame are those who have a rare hereditary disease called phenylketonuria PKU—and every product that contains aspartame carries a PKU warning on the label.
The Small Change Diet Keri Gans 2011
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Virtually the only people who cannot consume the artificial sweetener aspartame are those who have a rare hereditary disease called phenylketonuria PKU—and every product that contains aspartame carries a PKU warning on the label.
The Small Change Diet Keri Gans 2011
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Newborn screening was pioneered in the 1940s by Robert Guthrie, who, having developed a simple blood test for a form of mental retardation called phenylketonuria PKU, proposed the newborn heel stick test to test for PKU and other “inborn errors of metabolism.”
The $1,000 Genome Kevin Davies 2010
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Years ago all babies were screened for a very rare condition called phenylketonuria PKU with a blood test.
The Official Lamaze® Guide Judith Lothian RN 2010
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The discovery led to the most effective treatment for the disease (now called phenylketonuria )—a diet low in phenylalanine, which the body converts to phenylpyruvic acid.
DIY DNA: One Father's Attempt to Hack His Daughter's Genetic Code 2009
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The discovery led to the most effective treatment for the disease (now called phenylketonuria )—a diet low in phenylalanine, which the body converts to phenylpyruvic acid.
DIY DNA: One Father's Attempt to Hack His Daughter's Genetic Code 2009
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(Unless you have a genetic disease called phenylketonuria (PKU), which prevents you from digesting the amino acid phenylalanine.
Dr. Joseph Mercola: The Deadly Neurotoxin Nearly EVERYONE Uses Daily (VIDEO) 2010
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For example, read: “Intellectual performance of 36 phenylketonuria patients and their nonaffected siblings” by Dobson, Kushida and Williams (1976) in Pediatrics volume 58, pages53 – 58.
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As an example of the power of environmental effects, consider infants with the genetic disorder PKU (phenylketonuria).
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