Abstract

A REVIEW ON GAUCHER’S DISEASE

D. Pravallika*, A. Himavarsha, Z. Rahmath Nisha, T. R. Hemavathi, K.T. Naik Banjara and B. Jeevan Kumar

ABSTRACT

Gaucher’s disease is a rare autosomal recessive inborn genetic disorder of lysosomal storage disorders, which leads to the accumulation of the glucosylceramide and its substrates in lysosomal macrophages.A literature review was undertaken to summarize the published evidence through PubMed, Medscape and WebMD. All articles in English identified from the data sources, clinical studies using Gaucher’s disease, and articles containing other interesting aspects were included. This study mainly reviews the classification of LSD based on enzyme deficiencies and GD as neuropathic and non-neuropathic forms, etiological factors that caused by a gene mutation called glucocerebrosidase, the pathophysiology of Gaucher’s disease, signs and, symptoms according to organ-wise involvement, diagnostic parameters by demonstrating the enzyme deficiency activity in leukocytes and, various treatment approaches involving FDA-approved intravenous enzyme replacement therapy using currently available drug molecules such as Cerezyme (imiglucerase), velaglucerase alfa (VPRIV) for types-1 and, 3 and orally substrate replacement therapy using drugs such as miglustat and eliglustat by inhibiting the glycosphingolipid biosynthesis. Symptomatic therapy in persons with non- ERT, rarely liver transplants and, bone-marrow transplantation are suggested.

Keywords: Gaucher disease (GD), glucocerebrosidase (GBA), lysosomal storage disease (LSD), Enzyme Replacement Therapy (ERT), Substrate Replacement Therapy (SRT).