TERMIUM Plus®

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

ENFERMEDAD METABOLICA [3 records]

Record 1 2023-03-21

English

Subject field(s)
  • Human Diseases - Various
  • Liver and Biliary Ducts
  • Muscles and Tendons
DEF

A disorder associated with an abnormal accumulation of normal or abnormal forms of glycogen in tissue.

French

Domaine(s)
  • Maladies humaines diverses
  • Foie et voies biliaires
  • Muscles et tendons
DEF

Toute maladie héréditaire transmise sur le mode autosomique récessif, caractérisée par le dépôt en excès du glycogène dans certains organes.

Spanish

Campo(s) temático(s)
  • Enfermedades humanas varias
  • Hígado y conductos biliares
  • Músculos y tendones
CONT

La glucogenosis es una enfermedad metabólica de tipo genética —no contagiosa— que se caracteriza por la ausencia o deficiencia de enzimas que participan en el metabolismo del glucógeno; es decir, la fuente de energía derivada de la glucosa que nuestro cuerpo almacena principalmente en el hígado y en el tejido muscular [...]

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Record 2 2004-11-30

English

Subject field(s)
  • Nervous System
DEF

Hereditary metabolic disorder affecting the central nervous system and characterized by incoordination, mental retardation, aggressive behaviour, and compulsive biting. The cause of the syndrome is a defective organic catalyst or enzyme, hypoxanthine - guanine - phosphoribosyl transferase, which normally is particularly active in brain cells and is involved in the metabolism of purines.

OBS

Lesch-Nyhan syndrome is transmitted by a recessive sex-linked gene and generally affects males.

French

Domaine(s)
  • Système nerveux
OBS

Le syndrome est causé par une absence d'enzyme : l'hypoxanthine - guanine - phospho - ribosyl - transférase.

Spanish

Campo(s) temático(s)
  • Sistema nervioso
CONT

El síndrome de Lesch-Nyhan es una enfermedad metabólica hereditaria caracterizada por la carencia total de la HPRT(hidroxantina fosforibosil transferasa), enzima que cataliza la conversión de la hipoxantina a inosina-5-monofosfato.

OBS

La enfermedad se caracteriza por hiperuricemia y gota en niños varones.

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Record 3 2002-05-27

English

Subject field(s)
  • Endocrine System and Metabolism
DEF

[A] disease caused by disruption of a normal metabolic pathway ...

French

Domaine(s)
  • Systèmes endocrinien et métabolique

Spanish

Campo(s) temático(s)
  • Sistemas endocrino y metabólico
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