title: Allogeneic bone marrow transplantation in mevalonic aciduria.
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.
authors.affiliation: Unité d'Immuno-Hématologie et Rhumatologie Pédiatrique, Assistance Publique-Hôpitaux de Paris, Paris, France.
authors.forename: Bénédicte
authors.initials: B
authors.lastname: Neven
authors.forename: Vassili
authors.initials: V
authors.lastname: Valayannopoulos
authors.forename: Pierre
authors.initials: P
authors.lastname: Quartier
authors.forename: Stéphane
authors.initials: S
authors.lastname: Blanche
authors.forename: Anne-Marie
authors.initials: AM
authors.lastname: Prieur
authors.forename: Marianne
authors.initials: M
authors.lastname: Debré
authors.forename: Marie-Odile
authors.initials: MO
authors.lastname: Rolland
authors.forename: Daniel
authors.initials: D
authors.lastname: Rabier
authors.forename: Laurence
authors.initials: L
authors.lastname: Cuisset
authors.forename: Marina
authors.initials: M
authors.lastname: Cavazzana-Calvo
authors.forename: Pascale
authors.initials: P
authors.lastname: de Lonlay
authors.forename: Alain
authors.initials: A
authors.lastname: Fischer
mesh_terms: D015415:Biomarkers / Q000097:blood; D016026:Bone Marrow Transplantation; D002675:Child, Preschool; D016207:Cytokines / Q000097:blood; D005183:Failure to Thrive / Q000209:etiology; D005334:Fever / Q000209:etiology; D006801:Humans; D007249:Inflammation / Q000209:etiology; D008297:Male; D008661:Metabolism, Inborn Errors / Q000097:blood / Q000150:complications / Q000628:therapy*; D008798:Mevalonic Acid / Q000652:urine*; D020125:Mutation, Missense; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000172:deficiency* / Q000235:genetics; D014184:Transplantation, Homologous
chemical_list: D015415:Biomarkers; D016207:Cytokines; D017853:Phosphotransferases (Alcohol Group Acceptor); C021796:mevalonate kinase; D008798:Mevalonic Acid