Allogeneic Bone Marrow Transplantation in Mevalonic Aciduria  

Oleh:

Neven, Benedicte ; Valayannopoulos, Vassili ; Quartier, Pierre ; Blanche, Stéphane ; Prieur, Anne-Marie ; and Others

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: The New England Journal of Medicine (keterangan: ada di Proquest) vol. 356 no. 26 (Jun. 2007), page 2700.

Ketersediaan

Perpustakaan FK Nomor Panggil: N08.K.2007.03 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

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Isi artikel

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.

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