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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 ?
- US-based clinical stage company Synlogic, Inc., (NASDAQ: SYBX) has received positive top-line clinical data from patient cohorts of a randomised, double-blind, placebo-controlled Phase 1/2a study of SYNB1618, which is being developed for the treatment of phenylketonuria, the company said.
In the U.S., Kuvan is approved to reduce blood phenylalanine (Phe) levels in patients with hyperphenylalaninemia (HPA) due to tetrahydrobiopterin- (BH4-) responsive Phenylketonuria (PKU).
It has been designed to replace the deficient phenylalanine hydroxylase enzyme in phenylketonuria patients with the PEGylated version of the enzyme phenylalanine lyase.
Phenylketonuria (PKU, OMIM 261600) is an autosomal recessive inborn error of phenylalanine metabolism, caused by a deficient activity of phenylalanine hydroxylase (PAH, EC - an enzyme that coverts the essential amino acid phenylalanine (Phe) to tyrosine, leading to an accumulation of Phe in blood and other tissues (1).
Phenylketonuria (PKU) is the most common autosomal recessive inborn error of amino acid metabolism.
Phenylketonuria (PKU) is an autosomal recessive metabolic disorder caused by a deficiency in the enzyme phenylalanine hydroxylase that converts the essential amino acid phenylalanine (Phe) into tyrosine.
The seven-year-old, identified as S, has severe autism and phenylketonuria (PKU), which inhibits his ability to digest protein.
Background: Phenylalanine hydroxylase (PAH) gene is the well-known causative gene for classic Phenylketonuria (PKU) (OMIM#261600) disease, with more than 500 reported mutations.
Brenda Cuthill, 55, has the rare disorder Phenylketonuria (PKU), which can lead to brain damage.