What accumulates in cells in Gaucher's Disease?

What accumulates in cells in Gaucher's Disease?

• A. Sphingomyelin
• B. Cholesterol esters
• C. Glucocerebroside
• D. Apolipoprotein B

Answer: (C)

In Gaucher's Disease, the substance that accumulates in cells is glucocerebroside. This condition is a type of lysosomal storage disorder caused by a deficiency in the enzyme glucocerebrosidase, which is responsible for breaking down glucocerebroside into glucose and ceramide. When this enzyme is deficient or inactive, glucocerebroside accumulates primarily within macrophages, leading to various symptoms such as splenomegaly, hepatomegaly, and skeletal complications. The presence of excess glucocerebroside in these cells is crucial for diagnosing the disease and can be identified through specialized staining techniques in tissue samples. Understanding the metabolic pathway involved in Gaucher's Disease helps in appreciating the significance of glucocerebroside accumulation in terms of the pathology and clinical presentation of the disorder.

In Gaucher's Disease, the substance that accumulates in cells is glucocerebroside. This condition is a type of lysosomal storage disorder caused by a deficiency in the enzyme glucocerebrosidase, which is responsible for breaking down glucocerebroside into glucose and ceramide. When this enzyme is deficient or inactive, glucocerebroside accumulates primarily within macrophages, leading to various symptoms such as splenomegaly, hepatomegaly, and skeletal complications.

The presence of excess glucocerebroside in these cells is crucial for diagnosing the disease and can be identified through specialized staining techniques in tissue samples. Understanding the metabolic pathway involved in Gaucher's Disease helps in appreciating the significance of glucocerebroside accumulation in terms of the pathology and clinical presentation of the disorder.