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This enzyme is ordinarily found in special compartments within cells called lysosomes and is required to metabolize a certain lipid (fat).

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13y ago
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5mo ago

Acid sphingomyelinase (ASM) is an enzyme involved in the metabolism of sphingolipids. Mutations in the gene encoding ASM lead to deficient enzyme activity, causing Niemann-Pick disease, a lysosomal storage disorder characterized by the accumulation of sphingomyelin in cells. Experimental treatments targeting ASM are being developed as potential therapies for this disease.

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Q: What is acid sphingomyelinase?
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Related questions

What are the different types of Niemann-Pick disease related to?

The different types seem to be related to the activity level of the enzyme sphingomyelinase.


Recessive disorder that results from the absence of an enzyme required to break lipids down?

The recessive disorder you are referring to is likely Niemann-Pick disease, which results from the absence of an enzyme called acid sphingomyelinase. This enzyme is essential for breaking down lipids, leading to lipid accumulation in cells and tissues, particularly in the brain and spleen. Symptoms of Niemann-Pick disease can include neurological problems, enlarged liver and spleen, and respiratory difficulties.


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