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ASMD Phenotypes

This video summarizes the phenotypes of Acid sphingomyelinase deficiency genetic Disease (ASMD). Acid sphingomyelinase deficiency (ASMD) is a rare progressive genetic disorder that results from a deficiency of the enzyme acid sphingomyelinase, which is required to break down (metabolize) a fatty substance (lipid) called sphingomyelin.

MAT-BH-2200034/V1/Jan 2022