Question:medium
Sphingomyelinase deficiency is seen in:
Sphingomyelinase deficiency is seen in:
Show Hint
Sphingomyelin builds up, so think of the disease named for that lipid.
Updated On: Jun 24, 2026
- Niemann-Pick disease
- Farber's disease
- Tay-Sachs disease
- Krabbe's disease
Show Solution
The Correct Option is A
Solution and Explanation
Match each disorder to its enzyme and the molecule it cannot clear. The clue word is sphingomyelin, the substrate of acid sphingomyelinase. When that enzyme fails, sphingomyelin piles up inside lysosomes, producing the foamy storage cells, big liver and spleen, and in the infantile form the cherry-red spot of Niemann-Pick disease. Run the distractors to be sure: Farber disease lacks ceramidase and stores ceramide; Tay-Sachs lacks hexosaminidase A and stores $GM2$ ganglioside; Krabbe lacks galactocerebrosidase and stores galactocerebroside. None of those touch sphingomyelin. The enzyme named in the stem therefore identifies Niemann-Pick disease.
\[\boxed{\text{Niemann-Pick disease}}\]
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