Published in
JIMD Reports, p. 41-44
Links
- ORCID
- Crossref
- [www.ncbi.nlm.nih.gov] | PDF
- [europepmc.org] | PDF
- [www.ncbi.nlm.nih.gov] | PDF
- [www.ncbi.nlm.nih.gov] | PDF
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MNGIE Syndrome: Liver Cirrhosis Should Be Ruled Out Prior to Bone Marrow Transplantation
Book chapter published in 2012 by
Armin Finkenstedt,
Melanie Schranz,
Sylvia Bösch,
Daniela Karall,
Sabine Scholl Bürgi,
Christian Ensinger,
Mathias Drach,
Johannes A. Mayr,
Andreas R. Janecke 
,
Wolfgang Vogel,
David Nachbaur,
Heinz Zoller
,
Wolfgang Vogel,
David Nachbaur,
Heinz Zoller
Abstract
Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is an autosomal recessive mitochondriopathy caused by loss-of-function mutations in the thymidine phosphorylase gene. The disease leads to premature death and is characterized by gastrointestinal dysmotility and cachexia, external ophthalmoplegia, a sensorimotor neuropathy, and leukoencephalopathy. Bone marrow transplantation (BMT) is the only potentially curative treatment that can achieve a sustained biochemical correction of the metabolic imbalances.