Response to therapy. (A) Characteristic reduction in plasma glucosylsphingosine, chitotriosidase and CCL18 in 2 type 1 Gaucher patients after enzyme therapy. Reductions are expressed as percentage of amount at start of treatment. Patient with wild-type chitotriosidase genotype (left panel); patient homozygous for a 24 bp duplication in the chitotriosidase gene, lacking chitotriosidase activity (right panel). (B-D) Changes in plasma glucosylsphingosine (left panels) and chitotriosidase (right panels) levels in 3 siblings suffering from type 3 Gaucher disease after enzyme replacement therapy (ERT; variable dosage) in combination with miglustat treatment (SRT). Patients received different combinations of enzyme replacement therapy and treatment with miglustat (3 × 100 mg/kg/d), starting at a very young age. The individual treatment regimens are indicated as ERT and SRT.