Mevalonic Aciduria Cured by Bone Marrow Transplantation

1 discuss the use of bone marrow transplantation in the treatment of severe mevalonic aciduria.We provide additional evidence for the effective cure of mevalonic aciduria by hematopoietic stem-cell transplantation.In February 2006, we performed hematopoietic stem-cell transplantation in an 8-year-old boy who had mevalonic aciduria associated with a polymorphism in the TNFRSF1A gene, using allogeneic bone marrow from a matched sibling.Details of the clinical features of the case and biochemical and genetic evidence for the diagnosis of the periodic fever syndrome have been reported previously. 2 The patient's severe febrile episodes, which had occurred on the average of every 1 to 2 months since infancy, were resistant to 4-to-6-month trials of treatment with highdose aspirin, prednisolone, cyclosporine, and anakinra.The use of subcutaneous etanercept led to only a temporary respite, lasting less than 6 months.However, in the 16 months since transplantation of bone marrow from an HLA-matched sister, our patient has had no further episodes of periodic fever.The patient is now well, with stable full donor chimerism (100%).Chronic, mild, graft-versushost disease (GVHD) limited to the skin is controlled with oral tacrolimus and topical corticosteroids.However, in contrast to the patient described by Neven et al., our patient had an