TERMIUM Plus®

The Government of Canada’s terminology and linguistic data bank.

ALKAPTONURIA [1 record]

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Record 1 2011-09-09

English

Subject field(s)
  • Human Diseases - Various
  • Genetics
OBS

Manifestations include elevated concentrations of homogentisic acid in urine, which darkens on standing or undergoing alkalinization; ochronosis; and arthritis.

French

Domaine(s)
  • Maladies humaines diverses
  • Génétique
DEF

Présence d'alcaptone dans l'urine, mise en évidence par l'apparition d'une coloration rouge sombre de l'urine exposée à l'air.

OBS

Résultat d'une dégradation incomplète de deux acides aminés, la phénylalanine et la tyrosine, l'alcaptonurie peut ne s'accompagner d'aucun signe clinique.

Spanish

Campo(s) temático(s)
  • Enfermedades humanas varias
  • Genética
DEF

Enfermedad hereditaria muy rara caracterizada [por la presencia de alcaptón en la orina y] por una tríada típica: excreción de grandes cantidades de orina de color oscuro, ocronosis (pigmentación del tejido conjuntivo) y artrosis degenerativa de las grandes articulaciones.

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