Gaucher’s disease is due to enzyme deficiency of
**Core Concept**
Gaucher's disease is a genetic disorder that results from a deficiency of the enzyme glucocerebrosidase, leading to the accumulation of glucocerebroside in various organs, particularly the spleen, liver, and bone marrow.
**Why the Correct Answer is Right**
The deficiency of glucocerebrosidase enzyme prevents the breakdown of glucocerebroside, a type of sphingolipid, into glucose and ceramide. This accumulation of glucocerebroside leads to the characteristic cellular and tissue damage seen in Gaucher's disease. The glucocerebrosidase enzyme is encoded by the GBA gene and is responsible for catalyzing the hydrolysis of glucocerebroside into glucose and ceramide.
**Why Each Wrong Option is Incorrect**
**Option A:** This option is incorrect because Gaucher's disease is not caused by a deficiency of acid alpha-glucosidase, which is the enzyme deficient in Pompe disease.
**Option B:** This option is incorrect because Niemann-Pick disease is caused by a deficiency of sphingomyelinase, not glucocerebrosidase.
**Option C:** This option is incorrect because Fabry disease is caused by a deficiency of alpha-Gal A, not glucocerebrosidase.
**Clinical Pearl / High-Yield Fact**
Gaucher's disease is an autosomal recessive disorder, meaning that a person must inherit two defective copies of the GBA gene (one from each parent) to express the disease.
**Correct Answer: D. Glucocerebrosidase**