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Tay-Sachs, Canavan, Sandhoff, GM1 and related diseases

Sphingomyelinase

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Sphingomyelinase

An enzyme that resides within the lysosomes and is responsible for the conversion of a lipid (fat) called sphingomyelin into another type of lipid called ceramide. This lipid conversion is critical for the normal structure and function of cells and tissues. Niemann-Pick Type A and B are characterized by its absence and resultant accumulation of sphingomyelin.

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