phenylketonuria

noun phe·nyl·ke·ton·uria \ˌfe-n^əl-ˌkē-t^ən-ˈu̇r-ē-ə, ˌfē-, -ˈyu̇r-\

Definition of PHENYLKETONURIA

: an inherited metabolic disorder caused by an enzyme deficiency resulting in accumulation of phenylalanine and its metabolites in the blood causing usually severe mental retardation and seizures unless phenylalanine is restricted from the diet beginning at birth —abbreviation PKU

— phe·nyl·ke·ton·uric \-ˈu̇r-ik, -ˈyu̇r-\ noun or adjective

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Origin of PHENYLKETONURIA

New Latin, from International Scientific Vocabulary phenyl + ketone + New Latin -uria

First Known Use: 1935

Medical Dictionary

phenylketonuria

noun phe·nyl·ke·ton·uria \ˌfen-^əl-ˌkēt-^ən-ˈ(y)u̇r-ē-ə, ˌfēn-\

Medical Definition of PHENYLKETONURIA

: a metabolic disorder that is caused by an enzyme deficiency resulting in the accumulation of phenylalanine and its metabolites (as phenylpyruvic acid) in the blood and their excess excretion in the urine, that is inherited as an autosomal recessive trait, and that causes usually severe mental retardation, seizures, eczema, and abnormal body odor unless phenylalanine is restricted from the diet beginning at birth—abbreviation PKU; called also phenylpyruvic amentia, phenylpyruvic oligophrenia