[Gaucher's disease and enzyme replacement therapy].
Gaucher disease is an autosomal recessive genetic disorder characterized by a deficiency in the glucocerebrosidase enzyme. Glucocerebroside then accumulates in macrophages (Gaucher cells), causing anemia, thrombocytopenia, organomegaly and major bone problems. Discovery of the enzyme deficiency by Brady in 1964, and subsequent extraction and partial deglycosylation of the native enzyme led to a treatment. 1,600 people out of 5,000 possible worldwide patients benefit from this drug. The 70 French treated patients (out of an estimated 200) show remarkable improvement.
Genzyme SA, Cergy-Pontoise.
F
F
Cornu
D005776:Gaucher Disease / Q000188:drug therapy* / Q000201:enzymology / Q000235:genetics; D005962:Glucosylceramidase / Q000627:therapeutic use*; D006801:Humans
D005962:Glucosylceramidase
Maladie de Gaucher et traitement par enzymothérapie substitutive.