phenylketonuria
noun
phe·nyl·ke·ton·uria
ˌfe-nᵊl-ˌkē-tᵊn-ˈu̇r-ē-ə 
ˌfē-,
-ˈyu̇r-
: 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
Examples of phenylketonuria in a Sentence
Recent Examples on the Web
In May, Bank of America upgraded the stock to a buy rating from neutral, citing the launch of the company’s new program focused on phenylketonuria, or PKU, a rare metabolic disease.
—
Lisa Kailai Han, CNBC, 2 Sep. 2025
Treat any existing cases of diabetes or phenylketonuria (a genetic disorder that causes amino acid build-up in the blood).
—Mark Gurarie, Verywell Health, 18 Sep. 2024
For example, the primary treatment for phenylketonuria (PKU) is limiting the intake of foods that contain an amino acid called phenylalanine such as meat, dairy, nuts and tofu.
—Bruce Y. Lee, Forbes, 18 Feb. 2024
The company’s efforts to convert healthy red blood cells into drugs failed to yield positive results for treatment of the rare genetic disease phenylketonuria (commonly known as PKU); its efforts whiffed again once the company pivoted to cancer treatments.
—Paolo Confino, Fortune, 10 Aug. 2023
He was born with phenylketonuria (PKU), the build-up of amino acid called phenylalanine in the body which can cause learning disabilities.
—Eric Walden, The Salt Lake Tribune, 10 Aug. 2022
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, BostonGlobe.com, 12 July 2022
The classic success story is neonatal screening for phenylketonuria [a genetic disorder characterized by the inability to utilize the amino acid phenylalanine], which has saved thousands of children’s brains.
—Robert Keating, Discover Magazine, 15 Dec. 2010
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Lisa Kailai Han, CNBC, 2 Sep. 2025
Treat any existing cases of diabetes or phenylketonuria (a genetic disorder that causes amino acid build-up in the blood).
—Mark Gurarie, Verywell Health, 18 Sep. 2024
For example, the primary treatment for phenylketonuria (PKU) is limiting the intake of foods that contain an amino acid called phenylalanine such as meat, dairy, nuts and tofu.
—Bruce Y. Lee, Forbes, 18 Feb. 2024
The company’s efforts to convert healthy red blood cells into drugs failed to yield positive results for treatment of the rare genetic disease phenylketonuria (commonly known as PKU); its efforts whiffed again once the company pivoted to cancer treatments.
—Paolo Confino, Fortune, 10 Aug. 2023
He was born with phenylketonuria (PKU), the build-up of amino acid called phenylalanine in the body which can cause learning disabilities.
—Eric Walden, The Salt Lake Tribune, 10 Aug. 2022
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, BostonGlobe.com, 12 July 2022
The classic success story is neonatal screening for phenylketonuria [a genetic disorder characterized by the inability to utilize the amino acid phenylalanine], which has saved thousands of children’s brains.
—Robert Keating, Discover Magazine, 15 Dec. 2010
Cite this Entry
“Phenylketonuria.” Merriam-Webster.com Dictionary, Merriam-Webster, https://www.merriam-webster.com/dictionary/phenylketonuria. Accessed 3 Nov. 2025.
Copy CitationKids Definition
phenylketonuria
noun
phe·nyl·ke·ton·uria
ˌfen-ᵊl-ˌkēt-ᵊn-ˈ(y)u̇r-ē-ə
ˌfēn-
: an inherited disease of human beings that is marked by the inability to break down and process a certain chemical in the body and may cause severe brain damage if not treated properly
Medical Definition
phenylketonuria
noun
phe·nyl·ke·ton·uria
ˌfen-ᵊl-ˌkēt-ᵊn-ˈ(y)u̇r-ē-ə, ˌfēn-
: 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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