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Previous Volume 356:2700-2703 June 28, 2007 Number 26 Next

	Full Text PDF PDA Full Text PowerPoint Slide Set Perspective by Haas, D. Letters Letters Add to Personal Archive Add to Citation Manager Notify a Friend E-mail When Cited E-mail When Letters Appear

SUMMARY

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.

Source Information

From Unité d'Immuno-Hématologie et Rhumatologie Pédiatrique (B.N., P.Q., S.B., A.-M.P., M.D., A.F.), Unité de Pédiatrie et Maladies Métaboliques (V.V., P. L.), Laboratoire de Biochimie (D.R.), and Département de Biothérapie (M.C.-C.), Assistance Publique–Hôpitaux de Paris; Hôpital Necker–Enfants Malades, Université René Descartes, and INSERM Unité 768 (B.N., P.Q., A.F.); and Génétique et Physiopathologie des Maladies Inflammatoires Héréditaires, Institut Cochin, Hôpital Cochin (L.C.) — all in Paris; and Service de Biochimie Pédiatrique, Hôpital Debrousse, Lyon, France (M.-O.R.).

Address reprint requests to Dr. Fischer at Service d'Immuno-Hématologie Pédiatrique, Hôpital Necker–Enfant Malades, 149 rue de Sèvres, 75015 Paris, France, or at alain.fischer{at}nck.aphp.fr.

Full Text of this Article

Related Letters:

Mevalonic Aciduria Cured by Bone Marrow Transplantation
Arkwright P. D., Abinun M., Cant A. J.
Extract | Full Text | PDF  
N Engl J Med 2007; 357:1350, Sep 27, 2007. Correspondence

Mevalonate Kinase Deficiency and Autoinflammation
Hager E. J., Gibson K. M.
Extract | Full Text | PDF  
N Engl J Med 2007; 357:1871-1872, Nov 1, 2007. Correspondence

This article has been cited by other articles:

• Hager, E. J., Gibson, K. M. (2007). Mevalonate Kinase Deficiency and Autoinflammation. NEJM 357: 1871-1872 [Full Text]  
• Arkwright, P. D., Abinun, M., Cant, A. J. (2007). Mevalonic Aciduria Cured by Bone Marrow Transplantation. NEJM 357: 1350-1350 [Full Text]