phenylketonuria
[ fen-l-kee-toh-noo r-ee-uh, -nyoo r-, feen- ]
/ ˌfɛn lˌki toʊˈnʊər i ə, -ˈnyʊər-, ˌfin- /
noun Pathology.
an inherited disease due to faulty metabolism of phenylalanine, characterized by phenylketones in the urine and usually first noted by signs of mental retardation in infancy.
Also called
phenylpyruvic oligophrenia.
Origin of phenylketonuria
OTHER WORDS FROM phenylketonuria
phen·yl·ke·to·nu·ric, adjectiveWords nearby phenylketonuria
British Dictionary definitions for phenylketonuria
phenylketonuria
/ (ˌfiːnaɪlˌkiːtəˈnjʊərɪə) /
noun
a congenital metabolic disorder characterized by the abnormal accumulation of phenylalanine in the body fluids, resulting in various degrees of mental deficiency
Word Origin for phenylketonuria
C20: New Latin; see
phenyl,
ketone,
-uria
Medical definitions for phenylketonuria
phenylketonuria
[ fĕn′əl-kēt′n-ur′ē-ə, fē′nəl- ]
n.
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.
Scientific definitions for phenylketonuria
phenylketonuria
[ fĕn′əl-kēt′n-ur′ē-ə, fē′nəl- ]
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.
Cultural definitions for phenylketonuria
phenylketonuria
[ (fen-l-keet-n-oor-ee-uh) ]
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 for phenylketonuria
States commonly require newborns to be tested for PKU.