phe·​nyl·​ke·​ton·​uria | \ ˌfe-nᵊl-ˌkē-tᵊn-ˈu̇r-ē-ə How to pronounce phenylketonuria (audio) , 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 intellectual disability and seizures unless phenylalanine is restricted from the diet beginning at birth abbreviation PKU

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Other Words from phenylketonuria

phenylketonuric \ ˌfe-​nᵊl-​ˌkē-​tᵊn-​ˈu̇r-​ik How to pronounce phenylketonuric (audio) , -​ˈyu̇r-​ \ noun or adjective

Examples of phenylketonuria in a Sentence

Recent Examples on the Web In the 1960s microbiologist Robert Guthrie developed a test for phenylketonuria (PKU), a genetic disorder that causes the amino acid phenylalanine to build up in the body. Tanya Lewis, Scientific American, "23 and Baby," 24 Dec. 2019 Some conditions, such as phenylketonuria, a genetic disorder that affects the processing of amino acids, have strong data to inform dietary recommendations. Caitlin Ostroff, WSJ, "Your DNA, Your Diet: How Nutrition Is Being Personalized," 30 Aug. 2018 The case given above would fit especially well with a genetic disorder affecting metabolism, phenylketonuria (pku). Longreads, "Fairy Scapegoats: A History of the Persecution of Changeling Children," 9 June 2018 In his infancy, he was diagnosed with a rare genetic disease, phenylketonuria (commonly referred to as PKU), where the body cannot properly break down protein. Susan Scutti, Newsweek, "The government owns your DNA. What are they doing with it?," 24 July 2014

These example sentences are selected automatically from various online news sources to reflect current usage of the word 'phenylketonuria.' Views expressed in the examples do not represent the opinion of Merriam-Webster or its editors. Send us feedback.

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First Known Use of phenylketonuria

1935, in the meaning defined above

History and Etymology for phenylketonuria

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

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Time Traveler for phenylketonuria

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The first known use of phenylketonuria was in 1935

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Last Updated

5 Jan 2020

Cite this Entry

“Phenylketonuria.” Dictionary, Merriam-Webster, Accessed 24 Feb. 2020.

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More Definitions for phenylketonuria


phe·​nyl·​ke·​ton·​uria | \ ˌfen-ᵊl-ˌkēt-ᵊn-ˈ(y)u̇r-ē-ə, ˌfēn- How to pronounce phenylketonuria (audio) \

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 intellectual disability, seizures, eczema, and abnormal body odor unless phenylalanine is restricted from the diet beginning at birth abbreviation PKU

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