Gaucher&;s disease is due to deficiency of enzyme
**Core Concept**
Gaucher's disease is a genetic disorder caused by a deficiency of the enzyme glucocerebrosidase, leading to the accumulation of glucocerebroside in cells and tissues. This accumulation results in the formation of Gaucher cells, which are characteristic of the disease. Glucocerebrosidase is a lysosomal enzyme involved in the breakdown of glucocerebroside, a glycosphingolipid.
**Why the Correct Answer is Right**
The deficiency of glucocerebrosidase leads to the accumulation of glucocerebroside in the lysosomes of cells, particularly in the spleen, liver, and bone marrow. This accumulation causes the cells to become engorged and leads to the formation of Gaucher cells. The glucocerebroside accumulation also results in the production of various inflammatory mediators, which contribute to the disease's clinical manifestations.
**Why Each Wrong Option is Incorrect**
* **Option A:** This option is incorrect because the enzyme deficiency in Gaucher's disease is not due to a deficiency of alpha-galactosidase, which is involved in Fabry disease.
* **Option B:** This option is incorrect because the enzyme deficiency in Gaucher's disease is not due to a deficiency of hexosaminidase A, which is involved in Tay-Sachs disease.
* **Option C:** This option is incorrect because the enzyme deficiency in Gaucher's disease is not due to a deficiency of arylsulfatase A, which is involved in metachromatic leukodystrophy.
**Clinical Pearl / High-Yield Fact**
Gaucher's disease is an autosomal recessive disorder, and patients with type 1 disease often present with non-specific symptoms such as fatigue, weight loss, and bleeding tendency due to splenomegaly and thrombocytopenia.
**Correct Answer:** A. Glucocerebrosidase.