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 Jr, D G Savage, 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 Jr, D G Savage

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.

Conflict of interest statement

Disclosure: The authors report no conflicts of interest.

Figures

Figure 1
Figure 1
Patient 1 pre– and post–allogeneic stem cell transplantation buffy coat thymidine phosphorylase (TP) activity in nmol/h/mg protein (A) and plasma thymidine and deoxyuridine levels in µM (B).
Figure 2
Figure 2
Patient 2 pre– and post–allogeneic stem cell transplantation buffy coat thymidine phosphorylase (TP) activity in nmol/h/mg protein (A) and plasma thymidine and deoxyuridine levels in µM (B).

Source: PubMed

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