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

Other Words from phenylketonuria

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

Examples of phenylketonuria in a Sentence

Recent Examples on the Web The company will move forward with some preclinical programs that were well underway, including drugs for the rare metabolic diseases phenylketonuria, methylmalonic acidemia, and propionic acidemia. Globe Staff,, 12 July 2022 Beichler's two sons, Jax, 7 months, and Taylor, 21 months, were both born with a metabolic condition called classic phenylketonuria (PKU). Georgia Slater,, 30 June 2022 Beichler's two sons Jax, 7 months, and Taylor, 21 months, were both born with classic phenylketonuria (PKU), a metabolic condition that requires them to be on medical-grade formula for life. Georgia Slater,, 1 July 2022 In 1963, Guthrie pioneered a simple test for detecting the genetic disorder phenylketonuria, commonly called PKU, using just a few drops of blood collected from a baby's heel and placed on filter paper. Mark Johnson,, 29 Apr. 2022 Among liver disorders, iECure’s will work on conditions called Ornithine Transcarbamylasedeficiency and phenylketonuria. Aayushi Pratap, Forbes, 9 Sep. 2021 Through whole exome sequencing, SPARK identified a case of phenylketonuria (PKU) that was missed during newborn screening. Wendy Chung, Scientific American, 30 Apr. 2021 But that approach is not unprecedented: People born with the metabolic disorder phenylketonuria, for whom the amino acid phenylalanine is a neurotoxin, stay healthy by getting amino acids from a phenylalanine-free drink. Jocelyn Kaiser, Science | AAAS, 1 Apr. 2021 Labs now offer testing for a menu of genetic conditions—most of them rare and severe conditions such as Tay-Sachs disease, cystic fibrosis, and phenylketonuria—allowing parents to select healthy embryos for implantation in the womb. Sarah Zhang, The Atlantic, 18 Nov. 2020 See More

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.

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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The first known use of phenylketonuria was in 1935

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Dictionary Entries Near phenylketonuria

phenyl isocyanate


phenyl mercaptan

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Last Updated

24 Jul 2022

Cite this Entry

“Phenylketonuria.” Dictionary, Merriam-Webster, Accessed 8 Aug. 2022.

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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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