Gaucher Disease: A Critical Overview

Abstract

Gaucher disease is a rare autosomal recessive genetic disorder. It is caused by the deficiency of lysosomal enzyme that is Beta glucocerbrosidase. It leads to deposition of the glucocerebroside in cells of the macrophage-monocyte system. The incidence rate of Gaucher disease is approximately 1 in 40,000 to 1 in 60,000 in general population. There are three main type of Gaucher disease that is Type 1, Type 2 and Type 3 and Perinatal lethal Gaucher disease. Features of Gaucher disease are Splenomegaly, Hepatomegaly, Bone infarction, interstitial lung disease. Restrictive pericarditis, Damage to the brain. Enzyme testing, DNA analysis are the main diagnostic evaluation of Gaucher disease. Enzyme replacement therapy and Subtract reduction therapy are the specific treatment modalities. The correct and early diagnosis helps avoiding complication of Gaucher disease.