Phenylketonuric



[fen-l-kee-toh-noo r-ee-uh, -nyoo r-, feen-] /ˌfɛn lˌki toʊˈnʊər i ə, -ˈnyʊər-, ˌfin-/

noun, Pathology.
1.
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.
/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 phen·yl·ke·to·nu·ri·a (fěn’əl-kēt’n-ur’ē-ə, -yur’-, 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 mental retardation as a result of the accumulation of phenylalanine and its breakdown products.
phenylketonuria
(fěn’əl-kēt’n-r’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.
phenylketonuria (PKU) [(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.

Note: States commonly require newborns to be tested for PKU.

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