phenylketonuria

[ fen-l-kee-toh-noor-ee-uh, -nyoor-, feen- ]

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.

phenylketonuria

/ 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

phenylketonuria

/ 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.

phenylketonuria

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.

Notes

States commonly require newborns to be tested for PKU.

Other Words From

• phen·yl·ke·to·nu·ric adjective

Word History and Origins

Origin of phenylketonuria¹

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

Word History and Origins

Origin of phenylketonuria¹

C20: New Latin; see phenyl , ketone , -uria