Gaucher disease, pronounced go-SHAY, is an inherited disease, and people with this condition lack sufficient activity levels of an enzyme called glucocerebrosidase. This enzyme normally helps the body break down worn-out cells and if there is not enough enzyme available then a fatty substance called glucocerebroside accumulates in the spleen, liver, bone marrow and sometimes in the central nervous system. It’s a bit like a recycling or waste disposal system becoming clogged with a fatty residue and not having any detergent to remove it, therefore it causes blockages. These blockages led to a range of symptoms depending on the organ and level of blockage.

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