**Core Concept**
Niemann-Pick disease is a group of genetic disorders characterized by the accumulation of sphingomyelin, a type of sphingolipid, in various tissues due to a deficiency in the enzyme responsible for its breakdown. This accumulation leads to cellular and tissue dysfunction, resulting in a range of clinical manifestations.
**Why the Correct Answer is Right**
The deficient enzyme in Niemann-Pick disease is acid sphingomyelinase (ASM), a lysosomal enzyme that catalyzes the breakdown of sphingomyelin into ceramide and phosphocholine. In the absence of functional ASM, sphingomyelin accumulates within lysosomes, leading to cellular dysfunction and the characteristic clinical features of the disease. This enzymatic deficiency is most commonly seen in type A Niemann-Pick disease.
**Why Each Wrong Option is Incorrect**
**Option A:** Glucocerebrosidase is the deficient enzyme in Gaucher's disease, a different lysosomal storage disorder.
**Option B:** Arylsulfatase A is the deficient enzyme in Metachromatic Leukodystrophy, another lysosomal storage disorder.
**Option C:** Alpha-Galactosidase A is the deficient enzyme in Fabry disease, a different lysosomal storage disorder.
**Clinical Pearl / High-Yield Fact**
Niemann-Pick disease is characterized by a range of clinical manifestations, including hepatosplenomegaly, pulmonary involvement, and neurodegeneration. Early diagnosis and management are crucial to prevent complications and improve quality of life.
**Correct Answer:** C. Acid sphingomyelinase.
Free Medical MCQs Β· NEET PG Β· USMLE Β· AIIMS
Access thousands of free MCQs, ebooks and daily exams.
By signing in you agree to our Privacy Policy.