alexa Allogeneic bone marrow transplantation in mevalonic aciduria.
Pediatrics

Pediatrics

Journal of Neonatal Biology

Author(s): Neven B, Valayannopoulos V, Quartier P, Blanche S, Prieur AM,

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Abstract 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. Copyright 2007 Massachusetts Medical Society. This article was published in N Engl J Med and referenced in Journal of Neonatal Biology

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