A lysosomal storage disease due to sphingomyelin accumulation in the reticuloendothelial system; there are five types distinguished by age of onset, amount of central nervous system involvement, and degree of enzyme deficiency. At least some types are characterized by foamy reticular cells containing phospholipids which infiltrate the liver, spleen, lungs, lymph nodes, and bone marrow.Niemann- Pick disease Type A and B occur due to the deficiency of an enzyme called acid sphingomyelinase (ASM). This enzyme is required for breaking down sphingomyelin, which is a product of fat metabolism. The lack of ASM leads to the collection of sphingomyelin or cholesterol in the body. Niemann-Pick disease Type C arises due to a defect in cholesterol and glycolipid transport mechanisms. According to another classification, Niemann-Pick disease is classified into two types: Niemann-Pick disease, SMPD1-associated (which includes Type A and Type B disease), and Niemann-Pick disease, Type C.
Several treatment options, including bone marrow transplants, enzyme replacement therapy, and gene therapy have been used. Research is ongoing to determine the effectiveness of such treatments. A medication called miglustat is currently used to treat type C. Miglustat is classified as an enzyme inhibitor, and works by preventing the body from producing fatty substances (in the case of type C, cholesterol) so that less of it will build up in the body. And there is no treatment for type A and D.Niemann-Pick Disease is one of a group of lysosomal storage diseases that affect metabolism and that are caused by genetic mutations. Results of a survey shows the extrapolation of Prevalence Rate of Niemann-Pick disease type C2 in Germany is 549 for the estimated total population of 82,42,46,092Investigators at the NINDS have identified two different genes that, when defective, contribute to Niemann-Pick disease type C. NINDS scientists are studying the mechanisms by which lipids accumulating in these storage diseases causes harm to the body. Additional research studies hope to identify biomarkers (signs that may indicate risk of a disease and improve diagnosis) for the lipid storage disorders.