The first patient described by William Anderson in 1898 could be traced back more than a century by family tree. He had the Varainte A143T.
One of his descendants was one of the first men to be treated with enzyme replacement therapy.
Also, the youngest patient starting therapy in the UK at age 3 had variant A143T.
Three Significant Milestones and a Review of the A143T Mutation Within one Family with Anderson Fabry Disease
P. Rohman, Uma Ramaswami, A. Mehta, D.A. Hughes
Royal Free Hospital, Lysosomal Storage Disorders Unit, Pond
St, London, NW3 2QG
52.ERA-EDTA Kongress in London (The European Renal Association and European Dialysis and Transplant Association congress)