phenylketonuria

American  

[fen-l-kee-toh-noor-ee-uh, -nyoor-, feen-] / ˌfɛn lˌki toʊˈnʊər i ə, -ˈnyʊər-, ˌfin- /

noun

Pathology.

1. an inherited disease due to faulty metabolism of phenylalanine, characterized by phenyl ketones in the urine and usually first noted by signs of intellectual disability in infancy.

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phenylketonuria British  

/ ˌfiːnaɪlˌkiːtəˈnjʊərɪə /

noun

1. a congenital metabolic disorder characterized by the abnormal accumulation of phenylalanine in the body fluids, resulting in various degrees of mental deficiency

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phenylketonuria Scientific  

/ fĕn′əl-kēt′n-r′ē-ə,fē′nəl- /

1. 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.

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phenylketonuria Cultural  

1. A hereditary disease that prevents the proper metabolism of phenylalanine, an amino acid. When phenylalanine is not metabolized properly, poisonous substances can build up in the body, causing brain damage and mental retardation. The effects of PKU can be controlled by a special diet.

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Discover More

States commonly require newborns to be tested for PKU.

Other Word Forms

• phenylketonuric adjective

Etymology

Origin of phenylketonuria

First recorded in 1930–35; from New Latin; phenyl, ketone, -uria