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What is Gaucher's disease is inherited as? and explain in detail?
Gaucher disease results from mutation in the gene that encodes glucocerebrosidase. There are three autosomal recessive variants of Gaucher disease resulting from distinct allelic mutations. Common to all is variably deficient activity of a glucocerebrosidase that normally cleaves the glucose residue from ceramide. This deficit leads to an accumulation of glucocerebroside, an intermediate in glycolipid metabolism, in the mononuclear phagocytic cells and their transformation into so-called Gaucher cells. (Robbins Basic Pathology,9th edition,pg no. 231)