Advanced Dental Admission Test (ADAT) 2025 – 400 Free Practice Questions to Pass the Exam

Fabry's disease is characterized by a deficiency in the enzyme alpha-galactosidase A. This enzyme plays a crucial role in the breakdown of a specific type of fat, known as globotriaosylceramide (GL-3), in the body's cells. When alpha-galactosidase A is deficient, GL-3 accumulates in various tissues, leading to a range of serious health issues. The accumulation primarily affects the kidney, heart, and skin, resulting in symptoms such as pain, organ dysfunction, and characteristic skin lesions.

Understanding the specific enzymes associated with different lysosomal storage disorders, such as Fabry's disease, is essential in diagnosing and managing these conditions effectively. Other enzymes mentioned, such as galactocerebrosidase and hexosaminidase A, are related to different conditions like Krabbe disease and Tay-Sachs respectively, while fructose bisphosphatase 2 is involved in carbohydrate metabolism rather than lysosomal storage disorders.