Fabry disease is associated with the deficiency of which enzyme?

Fabry disease is indeed associated with a deficiency of alpha-galactosidase A. This enzyme is crucial for the metabolism of glycolipids, specifically the breakdown of globotriaosylceramide (Gb3). In individuals with Fabry disease, the absence or reduced activity of alpha-galactosidase A leads to the accumulation of Gb3 in various tissues, including the skin, kidneys, heart, and nervous system. This accumulation is responsible for the symptoms associated with the disease, such as pain, skin rashes, and organ dysfunction.

The enzymatic role of alpha-galactosidase A is critical to understanding the pathophysiology of Fabry disease. Without this enzyme acting properly, the normal degradation of complex lipids is disrupted, leading to the manifestation of the disease symptoms over time. Recognition of this specific enzyme deficiency is essential for proper diagnosis and treatment of Fabry disease.