A group of autosomal recessive disorders in which harmful quantities of lipids accumulate in the viscera and the central nervous system. They can be caused by deficiencies of enzyme activities (SPHINGOMYELIN PHOSPHODIESTERASE) or defects in intracellular transport, resulting in the accumulation of SPHINGOMYELINS and CHOLESTEROL. There are various subtypes based on their clinical and genetic differences.
Also Known As:
Niemann Pick Disease; ASM Deficiencies; ASM Deficient Niemann Pick Disease; ASM-Deficient Niemann-Pick Diseases; Acid Sphingomyelinase deficient Niemann Pick Disease; Deficiencies, ASM; Deficiencies, Acid Sphingomyelinase; Deficiency, ASM; Deficiency, Acid Sphingomyelinase; Disease, ASM-Deficient Niemann-Pick; Diseases, ASM-Deficient Niemann-Pick; Niemann Pick Diseases; Niemann-Pick Disease, ASM-Deficient; Niemann-Pick Diseases, ASM-Deficient; Sphingomyelinase Deficiencies, Acid; Sphingomyelinase Deficiency, Acid; ASM Deficiency; ASM-Deficient Niemann-Pick Disease; Acid Sphingomyelinase Deficiency; Acid Sphingomyelinase-deficient Niemann-Pick Disease; Niemann-Pick Disease