Allogeneic Bone Marrow Transplantation in Mevalonic Aciduria

Mevalonic aciduria is a rare, inborn error of isoprene biosynthesis characterized by severe, periodic attacks of fever and inflammation, developmental delay, ataxia, and dysmorphic features. This autosomal recessive disease is caused by a mutation in the mevalonate kinase gene that severely reduces mevalonate kinase activity. A 3-year-old boy with mevalonic aciduria whose condition had failed to improve with antiinflammatory treatment underwent allogeneic bone marrow transplantation from an HLA-identical sister who was a heterozygous carrier of the mutant gene. We observed sustained remission of febrile attacks and inflammation during a 15-month follow-up period. A 3-year-old boy with mevalonic aciduria was treated with a bone marrow transplant from his HLA-identical sister. Soon after transplantation, the recurrent febrile attacks, hepatosplenomegaly, and signs of inflammation that characterize the disease subsided. A 3-year-old boy with mevalonic aciduria was treated with a bone marrow transplant from his HLA-identical sister. Soon after transplantation, the recurrent febrile attacks, hepatosplenomegaly, and signs of inflammation that characterize the disease subsided. Mevalonic aciduria (number 251170 in the mendelian inheritance in Man [MIM] database) is a rare inborn error of isoprene biosynthesis. 1 – 5 The typical clinical picture in children is one of recurrent attacks of fever, developmental delay, ataxia, dysmorphic features, failure to thrive, cataracts, and retinal dystrophy. 3 The prognosis for patients with mevalonic aciduria is poor; more than 50% of patients die during an inflammatory crisis in infancy or early childhood, and very few survive to adolescence. 6 This autosomal recessive disease is caused by a severe deficiency of mevalonate kinase (residual activity,