Which enzyme is responsible for the metabolism of sphingolipids in Fabry Disease?

Fabry Disease is a genetic disorder caused by a deficiency of a specific enzyme that leads to the accumulation of sphingolipids, particularly globotriaosylceramide. The enzyme responsible for this metabolism is alpha-galactosidase A. In individuals with Fabry Disease, the reduced activity of alpha-galactosidase A leads to a buildup of these sphingolipids in various organs, resulting in the characteristic symptoms of the disease, including pain, renal failure, and cardiovascular issues.

Other enzymes listed, while related to different sphingolipid metabolism pathways or other lysosomal storage diseases, do not play a direct role in the specific pathology of Fabry Disease. Beta-glucocerebrosidase is involved in Gaucher disease, sphingomyelinase is related to Niemann-Pick disease, and N-acetylglucosaminidase is associated with Sandhoff disease. Thus, alpha-galactosidase A is the enzyme that directly correlates with the metabolic dysfunction seen in Fabry Disease.