Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE

M. Hirano, R. Martí, C. Casali, S. Tadesse, T. Uldrick, B. Fine, D. M. Escolar, M. L. Valentino, I. Nishino, C. Hesdorffer, J. Schwartz, R. G. Hawks, D. L. Martone, M. S. Cairo, S. DiMauro, M. Stanzani, J. H. Garvin, D. G. Savage

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Pages (from-to)1458-1460
Number of pages3
JournalNeurology
Volume67
Issue number8
DOIs
StatePublished - Oct 2006
Externally publishedYes

Fingerprint

Mitochondrial Encephalomyopathies
Thymidine Phosphorylase
Stem Cell Transplantation
Chimerism
Nucleosides
Tissue Donors

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Hirano, M., Martí, R., Casali, C., Tadesse, S., Uldrick, T., Fine, B., ... Savage, D. G. (2006). Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE. Neurology, 67(8), 1458-1460. https://doi.org/10.1212/01.wnl.0000240853.97716.24

Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE. / Hirano, M.; Martí, R.; Casali, C.; Tadesse, S.; Uldrick, T.; Fine, B.; Escolar, D. M.; Valentino, M. L.; Nishino, I.; Hesdorffer, C.; Schwartz, J.; Hawks, R. G.; Martone, D. L.; Cairo, M. S.; DiMauro, S.; Stanzani, M.; Garvin, J. H.; Savage, D. G.

In: Neurology, Vol. 67, No. 8, 10.2006, p. 1458-1460.

Research output: Contribution to journalArticle

Hirano, M, Martí, R, Casali, C, Tadesse, S, Uldrick, T, Fine, B, Escolar, DM, Valentino, ML, Nishino, I, Hesdorffer, C, Schwartz, J, Hawks, RG, Martone, DL, Cairo, MS, DiMauro, S, Stanzani, M, Garvin, JH & Savage, DG 2006, 'Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE', Neurology, vol. 67, no. 8, pp. 1458-1460. https://doi.org/10.1212/01.wnl.0000240853.97716.24
Hirano M, Martí R, Casali C, Tadesse S, Uldrick T, Fine B et al. Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE. Neurology. 2006 Oct;67(8):1458-1460. https://doi.org/10.1212/01.wnl.0000240853.97716.24
Hirano, M. ; Martí, R. ; Casali, C. ; Tadesse, S. ; Uldrick, T. ; Fine, B. ; Escolar, D. M. ; Valentino, M. L. ; Nishino, I. ; Hesdorffer, C. ; Schwartz, J. ; Hawks, R. G. ; Martone, D. L. ; Cairo, M. S. ; DiMauro, S. ; Stanzani, M. ; Garvin, J. H. ; Savage, D. G. / Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE. In: Neurology. 2006 ; Vol. 67, No. 8. pp. 1458-1460.
@article{111c9bd9eb4e44f2b29991a5acf0da59,
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.",
author = "M. Hirano and R. Mart{\'i} and C. Casali and S. Tadesse and T. Uldrick and B. Fine and Escolar, {D. M.} and Valentino, {M. L.} and I. Nishino and C. Hesdorffer and J. Schwartz and Hawks, {R. G.} and Martone, {D. L.} and Cairo, {M. S.} and S. DiMauro and M. Stanzani and Garvin, {J. H.} and Savage, {D. G.}",
year = "2006",
month = "10",
doi = "10.1212/01.wnl.0000240853.97716.24",
language = "English (US)",
volume = "67",
pages = "1458--1460",
journal = "Neurology",
issn = "0028-3878",
publisher = "Lippincott Williams and Wilkins",
number = "8",

}

TY - JOUR

T1 - Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE

AU - Hirano, M.

AU - Martí, R.

AU - Casali, C.

AU - Tadesse, S.

AU - Uldrick, T.

AU - Fine, B.

AU - Escolar, D. M.

AU - Valentino, M. L.

AU - Nishino, I.

AU - Hesdorffer, C.

AU - Schwartz, J.

AU - Hawks, R. G.

AU - Martone, D. L.

AU - Cairo, M. S.

AU - DiMauro, S.

AU - Stanzani, M.

AU - Garvin, J. H.

AU - Savage, D. G.

PY - 2006/10

Y1 - 2006/10

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=33750306390&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=33750306390&partnerID=8YFLogxK

U2 - 10.1212/01.wnl.0000240853.97716.24

DO - 10.1212/01.wnl.0000240853.97716.24

M3 - Article

C2 - 16971696

AN - SCOPUS:33750306390

VL - 67

SP - 1458

EP - 1460

JO - Neurology

JF - Neurology

SN - 0028-3878

IS - 8

ER -