phenylketonuria en · NOUN
Pronunciation
- (US) audio
- /fɛnaɪ̯lkiːtəˈnjʊə̯ɹɪ.ə/ (UK)
- /fin-/ (UK)
- /fɛnəlkitəˈnʊɹi.ə/ (US)
Etymology
Etymology tree English phenylketone Proto-Indo-European *h₁wers-der. Ancient Greek οὐρέω (ouréō) Ancient Greek οὖρον (oûron) Ancient Greek -ουρία (-ouría)bor. New Latin -ūriabor. English -uria English phenylketonuria From phenylketone + -uria.
Meanings
-
(countable, uncountable) A metabolic disorder in which individuals lack the liver enzyme phenylalanine hydroxylase (PAH) which is needed to metabolize the amino acid phenylalanine.
Nash Hensley, of South Bend, Indiana, was born with two genetic disorders: achondroplasia, a bone growth disorder characterized by dwarfism, and phenylketonuria, or PKU, which causes the phenylalanine amino acid to build up in the body, according to the Mayo Clinic. PKU is caused by a defect in the gene that produces the enzyme needed to break down phenylalanine, so Nash is required to live on a restricted, low-protein diet.
2021 April 11, Rachel Trent, “How a 6-year-old with two rare disorders inspired a country song about Kenny Chesney”, in CNN, archived from the original on 12 Aug 2022:
Forms
| Spelling | Features | Labels | Source |
|---|---|---|---|
| phenylketonurias | Number=Plur | lexicographic |
Coordinates
phenylalanine ammonia lyase · phenylalanine · phenylalanine hydroxylase
Synonyms
Translations (11)
fi fenyyliketonuria (metabolic disorder) · da fenylketonuri (metabolic disorder) · nn Føllings sjukdom (metabolic disorder) · tr fenilketonüri (metabolic disorder) · cmn 苯酮尿癥 /苯酮尿症 (metabolic disorder) · fr phénylcétonurie (metabolic disorder) · cmn 苯丙酮尿癥 /苯丙酮尿症 (metabolic disorder) · nn fenylketonuri (metabolic disorder) · cs fenylketonurie (metabolic disorder) · ja フェニルケトン尿症 (metabolic disorder) · pt fenilcetonúria (metabolic disorder)