Gaucher’s disease is due to deficiency of enzyme –
**Core Concept**
Gaucher's disease is a rare genetic disorder caused by a deficiency of a specific enzyme involved in the breakdown and recycling of cellular waste. This enzyme deficiency leads to the accumulation of harmful substances in the body, particularly in the spleen, liver, and bone marrow.
**Why the Correct Answer is Right**
The correct answer is glucocerebrosidase, an enzyme responsible for breaking down glucocerebroside, a type of lipid. In Gaucher's disease, the deficiency of glucocerebrosidase leads to the accumulation of glucocerebroside in various organs, causing tissue damage and dysfunction. This enzyme is encoded by the GBA gene and plays a crucial role in the lysosomal pathway of lipid metabolism.
**Why Each Wrong Option is Incorrect**
**Option A:** Sphingomyelinase - This enzyme is associated with Niemann-Pick disease, a different lysosomal storage disorder. Sphingomyelinase deficiency leads to the accumulation of sphingomyelin in cells, causing various systemic problems.
**Option B:** Beta-glucosidase - This enzyme is involved in the breakdown of glucocerebroside, but its deficiency is associated with Krabbe disease, a different lysosomal storage disorder. Beta-glucosidase deficiency affects the breakdown of galactosylceramide, leading to severe neurological symptoms.
**Option C:** Arylsulfatase A - This enzyme is associated with Metachromatic Leukodystrophy, another lysosomal storage disorder. Arylsulfatase A deficiency leads to the accumulation of sulfatides in the nervous system, causing progressive neurological decline.
**Clinical Pearl / High-Yield Fact**
Gaucher's disease is characterized by a wide range of clinical manifestations, including anemia, thrombocytopenia, splenomegaly, and bone marrow involvement. Early diagnosis and treatment with enzyme replacement therapy can significantly improve the quality of life for patients with Gaucher's disease.
**Correct Answer: D. Glucocerebrosidase**