Niemann-Pick Disease

Niemann-Pick disease is a group of inherited lysosomal storage disorders in which fatty substances build up abnormally in the liver, spleen, bone marrow, lungs and, in some forms, the brain. Types A and B result from deficiency of the enzyme acid sphingomyelinase, with type A causing severe neurological damage in infancy and type B sparing the nervous system, while type C results from a separate defect in the cellular transport of cholesterol. The disease is named for German pediatrician Albert Niemann, who described an early case in 1914, and German pathologist Ludwig Pick, who further characterized its pathology in the 1920s.