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Niemann-Pick Disease Type B (ASMD or NPB)

Definition

Acid Sphingomyelinase Deficiency (ASMD) is a rare inherited condition caused by the lack of the enzyme sphingomyelinase, which breaks down a fatty substance called sphingomyelin. As a result, sphingomyelin accumulates in body tissues and organs. There are two subtypes, Niemann-Pick Disease Types A (severe, onset in infancy) and B (milder, later onset).

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