What type of deficiency is associated with Fabry Disease?

What type of deficiency is associated with Fabry Disease?

• A. Alpha-galactosidase A
• B. Hexosaminidase A
• C. Beta-glucocerebrosidase
• D. Galactocerebrosidase

Answer: (A)

Fabry Disease is associated with a deficiency in the enzyme alpha-galactosidase A. This enzyme plays a crucial role in the metabolism of glycosphingolipids, particularly in the breakdown of globotriaosylceramide (GL-3). When there is a deficiency of alpha-galactosidase A, this substrate accumulates in various tissues, leading to a range of symptoms, including pain, kidney dysfunction, cardiovascular issues, and skin lesions. Understanding the specific deficiency involved in Fabry Disease is essential for accurate diagnosis and management of the condition, as it informs the potential for enzyme replacement therapy and other treatment options.

Fabry Disease is associated with a deficiency in the enzyme alpha-galactosidase A. This enzyme plays a crucial role in the metabolism of glycosphingolipids, particularly in the breakdown of globotriaosylceramide (GL-3). When there is a deficiency of alpha-galactosidase A, this substrate accumulates in various tissues, leading to a range of symptoms, including pain, kidney dysfunction, cardiovascular issues, and skin lesions. Understanding the specific deficiency involved in Fabry Disease is essential for accurate diagnosis and management of the condition, as it informs the potential for enzyme replacement therapy and other treatment options.