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biological

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sphingomyelin lipidosis

sphingomyelin lipidosis Sphingomyelin lipidosis is the classic infantile form of Niemann-Pick disease caused by a mutation affecting sphingomyelin phosphodiesterase.

Sphingomyelin lipidosis is the classic infantile form of Niemann-Pick disease caused by a mutation affecting sphingomyelin phosphodiesterase. It involves buildup of sphingomyelins in immune-system scavenger cells and other body cells, leading to cell death and problems such as jaundice, enlarged liver and spleen, and severe brain damage.