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 (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.


(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]


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

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.
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


n. fenilquetonuria, trastorno metabólico genético que puede causar una deficiencia mental.

phenylketonuria (PKU)

n fenilcetonuria
References in periodicals archive ?
A specialized product of therapeutic nutrition based on an amino acid mixture without phenylalanine, for patients diagnosed with phenylketonuria
Evaluation of the Neonatal Screening Program for congenital hypothyroidism and phenylketonuria in the State of Mato Grosso, Brazil].
Dysfunction or the complete loss of function in the PAH enzyme would cause disturbances in the metabolism of the essential amino acid, phenylalanine, which would in turn cause the Phenylketonuria (PKU) disease (4).
FACT FILE PHENYLKETONURIA (PKU) is a rare inherited condition in which there is a build-up of phenylalanine in the body.
With a portfolio of products for the treatment of Phenylketonuria, Gaucher Disease, Niemann Pick Type C, Hereditary Tyrosinemia Type 1, Urea Cycle Disorders and others, Dipharma SA works to provide solutions for people affected by inborn metabolic diseases at an affordable cost and with a global reach.
Genotype and natural history in unrelated individuals with phenylketonuria and autistic behaviour.
USPRwire, Sun Mar 27 2016] Global Markets Direct's, 'Phenylketonuria (PKU) - Pipeline Review, H1 2016', provides an overview of the Phenylketonuria (PKU) pipeline landscape.
The diseases include phenylketonuria, sickle cell anemia, dystrophic epidermolysis bullosa, X-linked hypohidrotic ectodermal dysplasia, and Friedreich's ataxia-just a few of the more than 1000 genetic disorders that are well-described and many more that are not.
Individuals who suffer from phenylketonuria -- a metabolic disorder that causes cognitive impairment when phenylalanine level is too high -- can use GMP as an alternative protein source.
Ney, professor in the Department of Nutritional Sciences at the University of Wisconsin-Madison, studies the nutritional management of phenylketonuria (PKU), a genetic disease.
This article uses as a study model the rare genetic disorder phenylketonuria (PKU), which has an incidence of 1:12,000-16,000 in Southern Brazil (7,8).
1,2) In numerous countries, the screening process lead to the detection of certain congenital diseases, such as Phenylketonuria (PKU), one of many common inborn disorders caused by a metabolic error, a result of Phenylalanine hydroxylase (PAH) deficiency.