Epidemiology and screening policy

Gaucher disease is one of many Mendelian disorders, and although monogenic, the variability in clinical presentation presents a complex picture. Further to this complexity, very little is known about the pathogenesis of the disease. In this respect Gaucher disease is not alone; it belongs to a group of over 50 single gene disorders in which the mechanisms of pathology are poorly understood. These are collectively known as lysosomal storage disorders (LSD), a group of inherited metabolic disorders resulting from a deficiency of any one of a number of lysosomal enzymes or in a few instances from a deficiency of other proteins affecting the lysosome biogenesis or function.