Niemann-Pick
Alternate Names : Sphingomyelinase Deficiency (Type A Niemann-Pick Disease)
Definition Niemann-Pick disease is caused by specific genetic mutations. The four forms of Niemann-Pick Disease are all characterized by an accumulation of sphingomyelin and cholesterol in cells, particularly in the cells of major organs, such as the liver and the spleen. The three most commonly recognized forms of the disease are Types A, B and C.
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