Test Details: Mutation in gene encoding for alpha galactosidase, a lysosomal enzyme leads to development of Fabry's disease. This enzymatic defect leads to accumulation of neutral glycosphingolipids through out the body, particularly with in endothelial cells. Symptoms include numbness, tingling, extreme pain during physical activity, heat or cold intolerance, abnormal opacity of eye, etc. Enzyme testing is reliable for diagnosing Fabry disease in males however, it does not detect carriers.