TERMIUM Plus®

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

FABRY DISEASE [3 records]

Filter results by subject field Alphabetical list of terms

Filter results by subject field

Alphabetical list of terms

Record 1 2023-03-30

English

Subject field(s)
  • Pharmacology
  • Non-Surgical Treatment
DEF

Treatment of diseases that are characterized by the absence of a particular enzyme as a result of genetic malfunction or because of tissue malfunction ...

CONT

... enzyme replacement therapy(ERT) has been successfully used in Gaucher disease and... other lysosomal disorders, including Fabry disease.

OBS

The deficient or absent enzyme is usually administered intravenously.

French

Domaine(s)
  • Pharmacologie
  • Traitements non chirurgicaux
DEF

Thérapeutique utilisant des enzymes recombinantes, notamment dans des déficits héréditaires [...]

CONT

Le traitement enzymatique substitutif [utilisé dans les maladies de surcharge lysosomale] consiste à administrer au patient l'enzyme (recombinante) déficiente dans la pathologie dont il est atteint. Le traitement enzymatique substitutif augmente [...] la concentration de l'enzyme manquante et participe à la dégradation du substrat toxique accumulé dans les cellules de l'organisme. Le traitement [...] ne corrige pas l'anomalie génétique, mais [fournit] l'enzyme déficitaire.

Spanish

Save record 1

Record 2 2017-01-31

English

Subject field(s)
  • National Bodies and Committees (Canadian)
  • Human Diseases - Various
OBS

The Canadian Fabry Association(CFA) [is] a non-profit organization [created] to raise awareness and educate the public about Fabry disease, a very rare life threatening genetic, lysosomal storage disorder.

French

Domaine(s)
  • Organismes et comités nationaux canadiens
  • Maladies humaines diverses

Spanish

Save record 2

Record 3 2009-08-25

English

Subject field(s)
  • Human Diseases - Various
  • Urinary Tract
Universal entry(ies)
angiokeratoma corporis diffusum universale
Latin
CONT

Fabry disease is an inherited condition that affects only a few thousand people worldwide.... People with Fabry disease are missing or have insufficient amounts of the alpha-GAL [alpha-galactosidase or ceramide trihexosidase] enzyme, which is... responsible for removing a fatty substance, GL-3, from cells throughout the body. Without enough of this enzyme, the GL-3 substance builds up in cells. GL-3 build-up in kidney cells may cause severe kidney problems, including kidney failure.

OBS

Affected organs include ... the vascular endothelium, heart, brain, and kidneys, leading to an end-stage renal disease.

Key term(s)
  • Fabry’s disease

French

Domaine(s)
  • Maladies humaines diverses
  • Appareil urinaire
Entrée(s) universelle(s)
angiokeratoma corporis diffusum universale
Latin
DEF

Maladie héréditaire à transmission récessive atteignant [principalement] les sujets de sexe masculin, due à un déficit enzymatique en céramide trihexosidase, qui entraîne un trouble du métabolisme lipidique.

OBS

[La maladie de Fabry] se manifeste par des angiokératomes punctiformes disséminés et par des lésions viscérales graves (rénales, cardiaques, neurologiques, etc.).

Spanish

Save record 3

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