• enzyme
  • Defects in this enzyme are the cause of Niemann-Pick (NP) disease types A and B. The enzymatic defect results in pathologic accumulation of sphingomyelin and other lipids in the monocyte-macrophage system, which is the primary site of pathology in patients with NP disease. (cags.org.ae)
  • Mutations that lead to the production of an enzyme that retains some activity often cause Niemann-Pick disease type B. A reduction in enzyme activity within cells allows sphingomyelin to accumulate in cells. (nih.gov)