maladie de Fabry

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

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.