Which enzyme deficiency is a characteristic of Gaucher Disease?

Which enzyme deficiency is a characteristic of Gaucher Disease?

• A. Beta-hexosaminidase A
• B. Acid sphingomyelinase
• C. Glucocerebrosidase
• D. Aspartate transaminase

Answer: (C)

Gaucher Disease is specifically linked to a deficiency in the enzyme glucocerebrosidase. This enzyme plays a critical role in the metabolism of glucocerebrosides, which are a type of lipid found in the body's cells. When there is a deficiency of glucocerebrosidase, glucocerebrosides accumulate in various organs, particularly the liver, spleen, and bone marrow, leading to the characteristic symptoms of Gaucher Disease, such as hepatosplenomegaly, anemia, and bone lesions. Understanding the role of glucocerebrosidase is essential in recognizing the pathophysiology of Gaucher Disease, where enzymatic dysfunction results in the abnormal storage of glucocerebrosides. Identifying this deficiency is crucial for the diagnosis of the disease and for directing appropriate treatment options, such as enzyme replacement therapy.

Gaucher Disease is specifically linked to a deficiency in the enzyme glucocerebrosidase. This enzyme plays a critical role in the metabolism of glucocerebrosides, which are a type of lipid found in the body's cells. When there is a deficiency of glucocerebrosidase, glucocerebrosides accumulate in various organs, particularly the liver, spleen, and bone marrow, leading to the characteristic symptoms of Gaucher Disease, such as hepatosplenomegaly, anemia, and bone lesions.

Understanding the role of glucocerebrosidase is essential in recognizing the pathophysiology of Gaucher Disease, where enzymatic dysfunction results in the abnormal storage of glucocerebrosides. Identifying this deficiency is crucial for the diagnosis of the disease and for directing appropriate treatment options, such as enzyme replacement therapy.