Fabry's Disease is linked to a deficiency in which enzyme?

Fabry's Disease is linked to a deficiency in the enzyme alpha-galactosidase A. This enzyme is critical for the metabolism of certain lipids, specifically globotriaosylceramide, which is a type of glycosphingolipid. In individuals with Fabry's Disease, the deficiency leads to an accumulation of this lipid in various cells throughout the body, including in the heart, kidneys, skin, and nervous system. The clinical manifestations include pain, skin lesions, kidney dysfunction, and cardiovascular issues, reflecting the systemic impact of the accumulated substrate.

Understanding the role of alpha-galactosidase A and the resulting consequences of its deficiency is essential in recognizing Fabry's Disease as a lysosomal storage disorder. Other enzymes listed do not have a direct association with Fabry’s Disease; therefore, they are not linked to the same clinical features or metabolic pathways affected by the lack of alpha-galactosidase A.