Advanced Dental Admission Test (ADAT)

What deficiency characterizes Gaucher's disease?

1. Phospholipase A deficiency

2. B-glucocerebrosidase deficiency

3. Sphingomyelinase deficiency

4. HMG-CoA reductase deficiency

The correct answer is: B-glucocerebrosidase deficiency

Gaucher's disease is specifically characterized by a deficiency in the enzyme beta-glucocerebrosidase. This enzyme plays a crucial role in the metabolism of glycolipids, particularly in breaking down glucocerebroside into glucose and ceramide. When there is a deficiency in beta-glucocerebrosidase, glucocerebroside accumulates in various body tissues, leading to the symptoms associated with the disease, such as splenomegaly, hepatomegaly, bone pain, and anemia. The other options refer to different enzyme deficiencies that are associated with distinct metabolic disorders. For instance, phospholipase A deficiency is related to issues in the metabolism of phospholipids, sphingomyelinase deficiency pertains to the breakdown of sphingomyelin and is linked to Niemann-Pick disease, while HMG-CoA reductase deficiency impacts cholesterol synthesis. Each of these deficiencies results in different clinical manifestations, thus reinforcing the specificity of beta-glucocerebrosidase deficiency in Gaucher's disease.