What is Anderson-Fabry Disease?
Anderson-Fabry Disease is a rare, X-linked lysosomal storage disorder caused by the deficiency of the alpha-galactosidase A enzyme. It is characterized by the accumulation of glycosphingolipid in the cells of the body, leading to multi-organ dysfunction, including cardiomyopathy, renal failure, and neuropathy. Symptoms may include episodes of pain, fatigue, and gastrointestinal problems. Treatment options include enzyme replacement therapy and supportive care. 