Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE.
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.
Hirano
M
M
Department of Neurology, Columbia University Medical Center, 630 W. 168 St., P&S 4-443, New York, NY 10032, USA. mh29@columbia.edu
Martí
R
R
Casali
C
C
Tadesse
S
S
Uldrick
T
T
Fine
B
B
Escolar
D M
DM
Valentino
M L
ML
Nishino
I
I
Hesdorffer
C
C
Schwartz
J
J
Hawks
R G
RG
Martone
D L
DL
Cairo
M S
MS
DiMauro
S
S
Stanzani
M
M
Garvin
J H
JH
Savage
D G
DG
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
D009705:Nucleosides; D013939:Thymidine Phosphorylase