Meanings
plural phenylketonurias
- countableuncountablemedicineA metabolic disorder in which individuals lack the liver enzyme phenylalanine hydroxylase (PAH) which is needed to metabolize the amino acid phenylalanine.
1 more example
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 2022Synonyms: PKU
Synonyms & antonyms
nounA metabolic disorder in which individuals lack the liver enzyme phenylalanine hydroxylase (PAH) which is needed to metabolize the amino acid phenylalanine.
More synonyms by meaning
nouna genetic disorder of metabolism; lack of the enzyme needed to turn phenylalanine into tyrosine results in an accumulation of phenylalanine in the body fluids which causes various degrees of mental deficiency
Synonym sets from Open English WordNet, CC BY 4.0.
Origin
- Englishphenylketone
- Proto-Indo-European*h₁wers-
- Ancient Greekοὐρέω (ouréō)
- Ancient Greekοὖρον (oûron)
- Englishphenylketonuria
From phenylketone + -uria.
Full word history & related roots →Translations
Chinese Mandarin 苯丙酮尿癥 /苯丙酮尿症, 苯酮尿癥 /苯酮尿症
- 苯丙酮尿癥 /苯丙酮尿症 (běnbǐngtóngniàozhèng)metabolic disorder
- 苯酮尿癥 /苯酮尿症 (běntóngniàozhèng)metabolic disorder
Czech fenylketonurie
- fenylketonuriemetabolic disorder
Danish fenylketonuri
- fenylketonurimetabolic disorder
Finnish fenyyliketonuria
- fenyyliketonuriametabolic disorder
French phénylcétonurie
- phénylcétonuriemetabolic disorder
Japanese フェニルケトン尿症
- フェニルケトン尿症 (feniruketonnyōshō)metabolic disorder
Portuguese fenilcetonúria
- fenilcetonúriametabolic disorder
Turkish fenilketonüri
- fenilketonürimetabolic disorder
Cite this entry
phenylketonuria. (n.d.). In WatkinsX Dictionary. Retrieved November 4, 2026, from https://dictionary.watkinsx.com/word/phenylketonuria
“phenylketonuria.” WatkinsX Dictionary, https://dictionary.watkinsx.com/word/phenylketonuria. Accessed November 4, 2026.
WatkinsX Dictionary, s.v. “phenylketonuria,” accessed November 4, 2026, https://dictionary.watkinsx.com/word/phenylketonuria.
Source: phenylketonuria on Wiktionary, CC BY-SA 4.0.