Enzyme Therapy in Gaucher Disease Type 1: Effect of Neutralizing Antibodies to Acid β-Glucosidase
نویسندگان
چکیده
منابع مشابه
Enzyme therapy in Gaucher disease type 1: effect of neutralizing antibodies to acid beta-glucosidase.
Gaucher disease type 1, a non-neuronopathic lysosomal storage disease, is caused by mutations at the acid beta-glucosidase locus. Periodic infusions of macrophage-targeted acid beta-glucosidase reverse hepatosplenomegaly, hematologic, and bony findings in many patients. Two patients receiving enzyme therapy developed neutralizing antibodies to acid beta-glucosidase that were associated with a l...
متن کاملBiochemical response to substrate reduction therapy versus enzyme replacement therapy in Gaucher disease type 1 patients
BACKGROUND We retrospectively compared biochemical responses in type 1 Gaucher disease patients to treatment with glycosphingolipid synthesis inhibitors miglustat and eliglustat and ERT. METHODS Seventeen GD1 patients were included (n = 6 eliglustat, (two switched from ERT), n = 9 miglustat (seven switchers), n = 4 ERT (median dose 60U/kg/m). Plasma protein markers reflecting disease burden (...
متن کاملStructural comparison of differently glycosylated forms of acid-beta-glucosidase, the defective enzyme in Gaucher disease.
Gaucher disease is caused by mutations in the gene encoding acid-beta-glucosidase. A recombinant form of this enzyme, Cerezyme, is used to treat Gaucher disease patients by ;enzyme-replacement therapy'. Crystals of Cerezyme after its partial deglycosylation were obtained earlier and the structure was solved to 2.0 A resolution [Dvir et al. (2003), EMBO Rep. 4, 704-709]. The crystal structure of...
متن کاملPersistent bone disease in adult type 1 Gaucher disease despite increasing doses of enzyme replacement therapy.
In Gaucher disease type I (GD, OMIM #230800), deficient activity of the enzyme glucocerebrosidase results in hepatosplenomegaly, cytopenia and skeletal disease. Skeletal disease leads to chronic bone pain and/or severe complications such as pathological fractures, avascular necrosis and bone crises. Enzyme Replacement Therapy symptoms of the disease with doses ranging between 15 and 120 U/kg/4w...
متن کاملX-ray structure of human acid-beta-glucosidase, the defective enzyme in Gaucher disease.
Gaucher disease, the most common lysosomal storage disease, is caused by mutations in the gene that encodes acid-beta-glucosidase (GlcCerase). Type 1 is characterized by hepatosplenomegaly, and types 2 and 3 by early or chronic onset of severe neurological symptoms. No clear correlation exists between the approximately 200 GlcCerase mutations and disease severity, although homozygosity for the ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Blood
سال: 1997
ISSN: 1528-0020,0006-4971
DOI: 10.1182/blood.v90.1.43