Gaucher Disease

📋Overview

Gaucher disease is a rare inherited lysosomal storage disorder caused by a deficiency of the enzyme glucocerebrosidase. This leads to accumulation of glucocerebroside in certain cells, primarily macrophages, causing multi-organ involvement. It is classified into several types based on neurological involvement and severity. Gaucher disease is the modern preferred term; older or less specific labels include glucocerebrosidase deficiency or glucocerebrosidosis.