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N Engl J Med. 2007 Jun 28;356(26):2700-3.

Allogeneic bone marrow transplantation in mevalonic aciduria.

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1
Unité d'Immuno-Hématologie et Rhumatologie Pédiatrique, Assistance Publique-Hôpitaux de Paris, Paris, France.

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.

PMID:
17596604
DOI:
10.1056/NEJMoa070715
[Indexed for MEDLINE]
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