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Research Article Open Access
Gaucher’s disease is a Phenotypically heterogenous autosomal recessively inherited lysosomal storage disease, resulting from deficient activity of the enzyme glucocerebrosidase (GCase, acid β-glucosidase) due to mutations in GBA1. It is the most common amongst the various disorders classified under the lysosomal storage diseases. It is estimated that approximately 1 in 40,000- 60,000 persons in the general population has gaucher disease, or about 10,000 people worldwide. There are three types of gaucher disease Type 1 - non neuronopathic form, type 2 - acute neuronopathiic form and type 3 - chronic neuronopathic form respectively. All forms of the disease are autosomal recessively inherited. Mutations in the GBA1, located on chromosome 21, result in reduced/defective catalytic activity and/or stability of glucocerebrosidase. The glycolipid storage gives rise to characteristic Gaucher cells, macrophages engorged with lipid with a crumpled-tissue-paper appearance and displaced nuclei. Gaucher disease should be considered in the differential diagnosis in individuals with clinical features suggestive of the disease, including hepatomegaly, splenomegaly, anemia, thrombocytopenia, and skeletal disease. Analyses of several thousand affected individuals have broadened the range of the pan-ethnic disease variants provided initial genotype and phenotype correlations, and established the effectiveness of enzyme therapy. This review article provides a comprehensive review, critical examination of the prevalence, pathophysiology, and management of Gaucher disease.
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Author(s): K Sireesha, P Sailaja Rao