Allogeneic bone marrow transplantation in mevalonic aciduria.
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.
Neven
Bénédicte
B
Unité d'Immuno-Hématologie et Rhumatologie Pédiatrique, Assistance Publique-Hôpitaux de Paris, Paris, France.
Valayannopoulos
Vassili
V
Quartier
Pierre
P
Blanche
Stéphane
S
Prieur
Anne-Marie
AM
Debré
Marianne
M
Rolland
Marie-Odile
MO
Rabier
Daniel
D
Cuisset
Laurence
L
Cavazzana-Calvo
Marina
M
de Lonlay
Pascale
P
Fischer
Alain
A
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
D015415:Biomarkers; D016207:Cytokines; D017853:Phosphotransferases (Alcohol Group Acceptor); C021796:mevalonate kinase; D008798:Mevalonic Acid