Abstract
Gaucher disease (GD) is an autosomal recessive lipid storage disorder, caused by deficient activity of the lysosomal enzyme β-glucocerebrosidase, resulting in accumulation of glucocerebroside in ti...
Highlights
Gaucher disease (GD) results from an inherited deficiency of the lysosomal enzyme b-glucocerebrosidase.[1]
We report results of an open-label study that aimed to explore the efficacy and safety of velaglucerase alfa in the treatment of naive children and adolescents with type 3 GD
the glucocerebrosidase gene (GBA) genotypes were obtained after the start of the study and were consistent with classical genotypes associated with a type 3 GD diagnosis in 3 patients (2 patients with L444P/ L444P and 1 patient with F213I/F213I genotypes)
Summary
Gaucher disease (GD) results from an inherited deficiency of the lysosomal enzyme b-glucocerebrosidase.[1]. Enzyme replacement therapy and substrate reduction therapy for GD can improve hematological and visceral disease parameters associated with type 1 and 3 GD,[10,11,12] but no effects on neurological manifestations have been observed to date.[13,14,15]
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