phen·yl·ke·to·nu·ri·a (f n  l-k tn- r -, -yr-, fnl-)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 mental retardation as a result of the accumulation of phenylalanine and its breakdown products. phen yl·keto·nuric adj. & n. |
phenylketonuria [ˌfiːnaɪlˌkiːtəˈnjʊərɪə]
n
(Medicine / Pathology) a congenital metabolic disorder characterized by the abnormal accumulation of phenylalanine in the body fluids, resulting in various degrees of mental deficiency
[New Latin; see phenyl, ketone, -uria]
| phenylketonuria (fnl-ktn-r-, fnl-) 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. |
ThesaurusLegend: Synonyms Related Words Antonyms
| Noun | 1. | 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 |
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