Abstract

ENZYME REPLACEMENT THERAPY FOR GAUCHER DISEASE PATIENTS: AN EXPENSIVE TREATMENT

Col (Dr.) S.K. Yadav and Pramod Singh Khatri

ABSTRACT

Gaucher disease, the most well-known lysosomal storage disorder, is instigated by the inadequate activity of the lysosomal enzyme, acid bglucosidase (GlcCerase), prompting amassing of glucosylceramide (GlcCer), especially in cells of the macrophage. Almost 200 transformations in GlcCerase have been depicted, yet generally, genotype-phenotype correlations are frail and little is known about the down-stream biochemical changes that happen upon GlcCer accumulation that outcome in cell and tissue dysfunction. Conversely, the clinical course of Gaucher disease has been very much portrayed, and various treatment options (Enzyme Replacement Therapy) are also available. One other treatment, substrate reduction therapy, has recently been approved by FDA and others are in various phases of clinical trial. Transformation in the GBA1, situated on chromosome 21, result in decreased/defective activity glucocerebrosidase. The glycolipid storage offers ascend to trademark Gaucher cells, macrophages engorged with lipid with a folded tissue paper appearance and uprooted nuclei. Gaucher disease patient often have, hepatomegaly, splenomegaly, anemia, thrombocytopenia and skeletal disease. Investigations on a few thousand subjects have lingered the scope of the pan-ethnic disease variations providing genotype and phenotype relationships and discovery of successful ERT for such patients.

Keywords: Gaucher disease, lysosomal storage disease, glucocerebrosidase, enzyme replacement therapy, macrophage.