title: Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE.
abstract: Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a multisystemic autosomal recessive disease due to primary thymidine phosphorylase (TP) deficiency. To restore TP activity, we performed reduced intensity allogeneic stem cell transplantations (alloSCTs) in two patients. In the first, alloSCT failed to engraft, but the second achieved mixed donor chimerism, which partially restored buffy coat TP activity and lowered plasma nucleosides. Thus, alloSCT can correct biochemical abnormalities in the blood of patients with MNGIE, but clinical efficacy remains unproven.
authors.affiliation: Department of Neurology, Columbia University Medical Center, 630 W. 168 St., P&S 4-443, New York, NY 10032, USA. mh29@columbia.edu
authors.forename: M
authors.initials: M
authors.lastname: Hirano
authors.forename: R
authors.initials: R
authors.lastname: Martí
authors.forename: C
authors.initials: C
authors.lastname: Casali
authors.forename: S
authors.initials: S
authors.lastname: Tadesse
authors.forename: T
authors.initials: T
authors.lastname: Uldrick
authors.forename: B
authors.initials: B
authors.lastname: Fine
authors.forename: D M
authors.initials: DM
authors.lastname: Escolar
authors.forename: M L
authors.initials: ML
authors.lastname: Valentino
authors.forename: I
authors.initials: I
authors.lastname: Nishino
authors.forename: C
authors.initials: C
authors.lastname: Hesdorffer
authors.forename: J
authors.initials: J
authors.lastname: Schwartz
authors.forename: R G
authors.initials: RG
authors.lastname: Hawks
authors.forename: D L
authors.initials: DL
authors.lastname: Martone
authors.forename: M S
authors.initials: MS
authors.lastname: Cairo
authors.forename: S
authors.initials: S
authors.lastname: DiMauro
authors.forename: M
authors.initials: M
authors.lastname: Stanzani
authors.forename: J H
authors.initials: JH
authors.lastname: Garvin
authors.forename: D G
authors.initials: DG
authors.lastname: Savage
mesh_terms: D000328:Adult; D005260:Female; D005767:Gastrointestinal Diseases / Q000097:blood* / Q000601:surgery*; D006801:Humans; D008297:Male; D017237:Mitochondrial Encephalomyopathies / Q000097:blood* / Q000601:surgery*; D009422:Nervous System Diseases / Q000097:blood* / Q000601:surgery*; D009705:Nucleosides / Q000097:blood; D033581:Stem Cell Transplantation; D013939:Thymidine Phosphorylase / Q000097:blood; D018183:Transplantation Chimera; D014184:Transplantation, Homologous; D017211:Treatment Failure
chemical_list: D009705:Nucleosides; D013939:Thymidine Phosphorylase