title: Replacement therapy with imiglucerase for type 1 Gaucher's disease.
abstract: Gaucher's disease, the most common sphingolipidosis, is caused by deficiency of the lysosomal enzyme glucocerebrosidase. Therapy with alglucerase (the placental enzyme) is safe and effective at various dosing regimens. We report the use of low-dose imiglucerase (the recombinant enzyme) at two dosing schedules: 15 u/kg once fortnightly or 2.5 u/kg thrice weekly. Mean reductions in spleen and liver volumes achieved (in all ten patients) by imiglucerase at 12 months were 36.4% and 14.5%, respectively; mean increase in haemoglobin and platelet counts were 13.4% and 25.7%. There were no serious side-effects. No significant differences were observed between the two schedules. Low-dose low-frequency imiglucerase may be an alternative cost-effective approach with satisfactory clinical response and uncompromised quality of life.
authors.affiliation: Gaucher Clinic, Jerusalem, Israel.
authors.forename: A
authors.initials: A
authors.lastname: Zimran
authors.forename: D
authors.initials: D
authors.lastname: Elstein
authors.forename: E
authors.initials: E
authors.lastname: Levy-Lahad
authors.forename: S
authors.initials: S
authors.lastname: Zevin
authors.forename: I
authors.initials: I
authors.lastname: Hadas-Halpern
authors.forename: Y
authors.initials: Y
authors.lastname: Bar-Ziv
authors.forename: J
authors.initials: J
authors.lastname: Foldes
authors.forename: A J
authors.initials: AJ
authors.lastname: Schwartz
authors.forename: A
authors.initials: A
authors.lastname: Abrahamov
mesh_terms: D000293:Adolescent; D000328:Adult; D004334:Drug Administration Schedule; D005260:Female; D005776:Gaucher Disease / Q000097:blood / Q000188:drug therapy*; D005962:Glucosylceramidase / Q000008:administration & dosage* / Q000009:adverse effects; D006801:Humans; D008099:Liver / Q000033:anatomy & histology / Q000187:drug effects; D008297:Male; D008875:Middle Aged; D011994:Recombinant Proteins / Q000627:therapeutic use; D013154:Spleen / Q000033:anatomy & histology / Q000187:drug effects; D016896:Treatment Outcome
chemical_list: D011994:Recombinant Proteins; D005962:Glucosylceramidase; C090568:imiglucerase