phenylketonuria

noun

phe·nyl·ke·ton·uria ˌfe-nᵊl-ˌkē-tᵊn-ˈu̇r-ē-ə How to pronounce phenylketonuria (audio)

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

phenylketonuric

ˌfe-nᵊl-ˌkē-tᵊn-ˈu̇r-ik How to pronounce phenylketonuria (audio)

-ˈyu̇r-

noun or adjective

Example Sentences

Recent Examples on the Web 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 Beichler's two sons, Jax, 7 months, and Taylor, 21 months, were both born with a metabolic condition called classic phenylketonuria (PKU).

Georgia Slater, PEOPLE.com, 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, PEOPLE.com, 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, jsonline.com, 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 See More

单词	phenylketonuria
释义	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 phenylketonuric ˌfe-nᵊl-ˌkē-tᵊn-ˈu̇r-ik -ˈyu̇r- noun or adjective Example Sentences Recent Examples on the Web 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 Beichler's two sons, Jax, 7 months, and Taylor, 21 months, were both born with a metabolic condition called classic phenylketonuria (PKU). Georgia Slater, PEOPLE.com, 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, PEOPLE.com, 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, jsonline.com, 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 See More Word History Etymology New Latin, from International Scientific Vocabulary phenyl + ketone + New Latin -uria First Known Use 1935, in the meaning defined above 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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phenylketonuria

noun

Example Sentences

Word History

Medical Definition

noun