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Maladie de Gaucher
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Définition:
An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase () leading to intralysosomal accumulation of glycosylceramide mainly in cells of the . The characteristic Gaucher cells, glycosphingolipid-filled , displace normal cells in and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement.
Synonyme(s):
Déficit en bêta-glucocérébrosidase /
Sphingolipidose héréditaire de Gaucher /
Maladie de Gaucher de type 2 /
Maladie de Gaucher de type II /
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(NLM)®
de l'INSERM (version française)
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MALADIES
Maladies métaboliques et nutritionnelles
