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FABRY DISEASE [1 record]

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Record 1 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

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