Medical Laboratory Scientist (MLS) ASCP Practice Exam

Gaucher's disease is recognized as the most common lysosomal storage disorder. It results from a deficiency of the enzyme glucocerebrosidase, which is responsible for the breakdown of glucocerebroside, a type of lipid found in the body's cells. When this enzyme is lacking or deficient, glucocerebroside accumulates in cells, particularly in the spleen, liver, bone marrow, and nervous system. This accumulation leads to a range of symptoms such as anemia, bruising, and bone pain.

The prevalence of Gaucher's disease also plays a role in its classification as the most common lysosomal storage disease, especially among Ashkenazi Jews, where the carrier rate for the enzyme deficiency is significantly higher compared to the general population. This genetic predisposition contributes to a greater number of diagnosed cases.

In contrast, other lysosomal storage diseases, such as Fabry's disease, Hunter syndrome, and Pompe disease, have lower incidence rates and different enzyme deficiencies. This distinction helps clarify why Gaucher's disease stands out as the most common condition within this group of disorders.