What is the primary deficiency in Gaucher disease?

The primary deficiency in Gaucher disease is in the enzyme glucocerebrosidase. This enzyme is responsible for the breakdown of glucocerebroside, a type of glycolipid. When glucocerebrosidase is deficient or malfunctioning, it leads to the accumulation of glucocerebroside, particularly within macrophages. This accumulation causes various symptoms associated with Gaucher disease, including hepatosplenomegaly, bone pain, and hematological issues such as thrombocytopenia and anemia.

Gaucher disease is specifically categorized into three types, with type 1 being the most common and having a non-neuronopathic presentation, while types 2 and 3 involve neurological complications. The role of glucocerebrosidase is central to the pathophysiology of the disease, making its deficiency the correct answer regarding the primary issue in Gaucher disease. Understanding this deficiency is essential for diagnosis and management as enzyme replacement therapy targeting glucocerebrosidase can significantly improve outcomes for affected individuals.