enzyme test

What is Fabry’s disease? Fabry disease (Fabry syndrome, Fabry disease or Fabry-Anderson disease) is a rare metabolic disease in which an enzyme defect is caused by a gene mutation. The consequence is a reduced breakdown of metabolic products and their increased storage in the cell. As a result, the cell is damaged and dies. As … Fabry’s disease symptoms, causes and treatment

The diagnosis Fabry disease is not always easy to diagnose, and patients often have a long history of suffering before symptoms can be attributed to Fabry disease. It often takes several years for a doctor to make the correct diagnosis. If Fabry disease is suspected, the doctor makes the diagnosis by means of a series … The diagnosis | Fabry’s disease symptoms, causes and treatment