Deficient activity of alpha-galactosidase A in the patient’s plasma (patient 0,47 nmol.ml-1.h-1, normal range 2.4 - 11.3 nmol.ml-1.h-1) and leukocytes (patient 0.23 nmol.mg-1.h-1, normal range 30–77 nmol.mg-1.h-1) confirmed the diagnosis of FD. The gene discussed is GLA; the disease is Fabry disease.