Allogeneic Bone Marrow Transplantation in Mevalonic Aciduria
Authors:
- Vassili ValayannopoulosVVVassili Valayannopoulos
- Pierre QuartierPQPierre Quartier
- Stéphane BlancheSBStéphane Blanche
- Anne-Marie PrieurAPAnne-Marie Prieur
- Marianne DebréMDMarianne Debré
- Marie-Odile RollandMRMarie-Odile Rolland
- Daniel RabierDRDaniel Rabier
- Laurence CuissetLCLaurence Cuisset
- Marina Cavazzana-CalvoMCMarina Cavazzana-Calvo
- Pascale de LonlayPLPascale de Lonlay
- Alain FischerAFAlain Fischer
Open Access
- 28 June 2007
- journal article
- research article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 356 (26) , 2700-2703
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.Keywords
This publication has 15 references indexed in Scilit:
- Simvastatin treatment for inflammatory attacks of the hyperimmunoglobulinemia D and periodic fever syndromeClinical Pharmacology & Therapeutics, 2004
- Mevalonate kinase deficiencyNeurology, 2004
- Favorable preliminary experience with etanercept in two patients with the hyperimmunoglobulinemia D and periodic fever syndromeArthritis & Rheumatism, 2003
- Mevalonate Kinase Deficiency: Enlarging the Clinical and Biochemical SpectrumPediatrics, 2003
- Lack of isoprenoid products raises ex vivo interleukin‐1β secretion in hyperimmunoglobulinemia D and periodic fever syndromeArthritis & Rheumatism, 2002
- Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndromeEuropean Journal of Human Genetics, 2001
- Hyperimmunoglobulinemia D and Periodic Fever SyndromeMedicine, 1994
- Mevalonic aciduria in 3 siblings: A new recognizable metabolic encephalopathyPediatric Neurology, 1993
- Mevalonic Aciduria — An Inborn Error of Cholesterol and Nonsterol Isoprene BiosynthesisNew England Journal of Medicine, 1986
- Mevalonic aciduria: an inborn error of cholesterol biosynthesis?Clinica Chimica Acta, 1985