phenylketonuria

American  

[fen-l-kee-toh-noor-ee-uh, -nyoor-, feen-] / ˌfɛn lˌki toʊˈnʊər i ə, -ˈnyʊər-, ˌfin- /

noun

Pathology.

1. an inherited disease due to faulty metabolism of phenylalanine, characterized by phenyl ketones in the urine and usually first noted by signs of intellectual disability in infancy.

---

phenylketonuria British  

/ ˌfiːnaɪlˌkiːtəˈnjʊərɪə /

noun

1. a congenital metabolic disorder characterized by the abnormal accumulation of phenylalanine in the body fluids, resulting in various degrees of mental deficiency

---

phenylketonuria Scientific  

/ fĕn′əl-kēt′n-r′ē-ə,fē′nəl- /

1. A genetic disorder in which the body lacks an enzyme necessary to metabolize phenylalanine to tyrosine. If untreated, the disorder can cause brain damage and progressive mental retardation as a result of the accumulation of phenylalanine and its breakdown products.

---

phenylketonuria Cultural  

1. A hereditary disease that prevents the proper metabolism of phenylalanine, an amino acid. When phenylalanine is not metabolized properly, poisonous substances can build up in the body, causing brain damage and mental retardation. The effects of PKU can be controlled by a special diet.

---

Discover More

States commonly require newborns to be tested for PKU.

Other Word Forms

Derived Forms

• phenylketonuric
  adjective

Etymology

Origin of phenylketonuria

First recorded in 1930–35; from New Latin; see origin at phenyl, ketone, -uria

Example Sentences

Blood obtained by pricking a baby’s heel was collected on filter paper and tested for phenylketonuria, a rare metabolic condition that, if untreated, causes intellectual disability.

From Scientific American • Nov. 13, 2023

However, for individuals with a rare genetic disorder called phenylketonuria, phenylalanine can accumulate and cause health issues, so they are sometimes instructed to avoid it.

From Salon • Jul. 14, 2023

At Children’s Hospital, Richard Koch devoted most of his career to developmental disabilities, especially the early detection and prevention of phenylketonuria, commonly called PKU.

From Los Angeles Times • Apr. 18, 2023

One disease that is the result of an enzyme malfunction is phenylketonuria.

From Textbooks • Feb. 14, 2019

"S" has phenylketonuria or PKU, and his parents wanted him to take a drug called Kuvan to help him metabolise phenylalanine, an amino acid found in some proteins, which would cost about £100 a day.

From BBC • Sep. 29, 2017