Kiss_2008_J.Inherit.Metab.Dis_31 Suppl 2_S205

We report a Brazilian girl who was diagnosed as having galactosialidosis (deficiency of protective protein/cathepsin A; PPCA deficiency; GS) at the age of 2 years 6 months during an extensive investigation for renal failure. She was found to have low levels of both beta-galactosidase and alpha-neuraminidase in fibroblasts and to be a carrier of two novel mutations in the PPGB gene (p.G57V and p.R396W). She received a renal allograft at the age of 3 years 4 months. Transplantation was successful and graft function remains excellent after 6 years. However, the patient shows signs of progression of her primary disease. To our knowledge, she is the first GS patient to be given renal transplantation worldwide. We propose that renal transplantation should be considered as a therapeutic option for the treatment of severe renal complications of GS.