Anderson-Fabry disease: enzyme replacement therapy.

Sir, Anderson-Fabry disease is a metabolic lysosomal storage disease caused by a deficiency of the enzyme a-galactosidase A and inherited as an X-linked recessive trait. The progressive accumulation of glycosphingolipids (globotriaosylceramide, GB3) in blood, vessels and cells from several organs and tissues causes significant multi-systemic damage in homozygous males and in carrier females. For decades there has been no specific aetiological treatment for this disease, but recently a new enzyme replacement therapy has been developed by genetic engineering techniques. We present here a case of Fabry disease diagnosed in our department. The patient is currently on a course of enzyme replacement treatment with agalsidase alpha.