phenylketonuric


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Related to phenylketonuric: maple syrup urine disease, alkaptonuria, cystic fibrosis

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.

phenylketonuric

(ˌfiːnaɪlˌkiːtəʊˈnjʊərɪk) pathol
n
(Pathology) a person who is suffering from phenylketonuria or the condition in which the amount of phenylalanine in the blood cannot be regulated by the liver
adj
(Pathology) relating to the condition known as phenylketonuria in which the amount of phenylalanine in the blood cannot be regulated by the liver
References in periodicals archive ?
A model of human phenylalanine metabolism in normal subjects and in phenylketonuric patients.
Influence of phenylalanine intake on the chemistry and behaviour of a phenylketonuric child.
Phenylketonurics: Phenylketonuric patients should be informed that the 4-mg and 5-mg chewable tablets contain phenylalanine (a component of aspartame), 0.