Which enzyme is deficient in Niemann Pick Disease?

Niemann-Pick disease is characterized by a deficiency in sphingomyelinase, the enzyme responsible for breaking down sphingomyelin, a type of sphingolipid found in cell membranes. When sphingomyelinase is deficient, sphingomyelin accumulates in various organs, particularly the liver, spleen, and brain, leading to the clinical manifestations associated with the disease.

This defect in enzyme activity results in the characteristic symptoms of Niemann-Pick disease, such as hepatosplenomegaly and neurodegeneration. Understanding this enzymatic deficiency highlights the importance of sphingolipid metabolism in cellular function and how its disruption can lead to significant health issues.

The other enzymes listed are associated with different lysosomal storage disorders. For example, alpha-galactosidase A deficiency is related to Fabry disease, beta-glucocerebrosidase deficiency is involved in Gaucher disease, and N-acetylglucosaminidase is connected with the lysosomal storage disorder Sanfilippo syndrome. Thus, identifying sphingomyelinase as the deficient enzyme in Niemann-Pick disease is crucial for both diagnosis and understanding the underlying biochemical pathways affected by this condition.