Late-onset MNGIE due to partial loss of thymidine phosphorylase activity

Ramon Marti, Jan J.G.M. Verschuuren, Alan Buchman, Ikuo Hirano, Saba Tadesse, André B.P. Van Kuilenburg, Albert H. Van Gennip, Ben J.H.M. Poorthuis, Michio Hirano*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

57 Scopus citations

Abstract

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is caused by mutations in the gene encoding thymidine phosphorylase (TP). All MNGIE patients have had severe loss of TP function and prominent plasma accumulations of the TP substrates thymidine (dThd) and deoxyuridine (dUrd). Here, we report for the first time to our knowledge three MNGIE patients with later onset, milder phenotype, and less severe TP dysfunction, compared with typical MNGIE patients. This report demonstrates a direct relationship between the biochemical defects and clinical phenotypes in MNGIE and supports the notion that reduction of dThd and dUrd accumulation or TP replacement could be useful therapy for MNGIE.

Original languageEnglish (US)
Pages (from-to)649-652
Number of pages4
JournalAnnals of neurology
Volume58
Issue number4
DOIs
StatePublished - Oct 2005

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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