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.
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