Rare Disease Review: Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)

Document Type

Student Presentation

Presentation Date

April 2017

Faculty Sponsor

Julia Oxford


Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) is a rare autosomal recessive disorder that is caused by nuclear TYMP gene mutations; thymidine phosphorylase is depleted due to these mutations. In the nucleoside salvage pathway, thymidine phosphorylase converts thymidine to thymine which is essential for mitochondrial DNA replication and repair. Without thymidine phosphorylase, thymidine concentrations increase in the body and mitochondrial depletion occurs. Symptoms of MNGIE are typically observed in early childhood or adolescence, however MNGIE is not usually diagnosed until young adulthood. The most distinguishing characteristics of this disease include thin body habitus, gastrointestinal dysfunction, peripheral neuropathy, ophthalmoplegia, and cachexia. Disease presentation closely mimics that of Anorexia Nervosa and can be misdiagnosed as such, particularly in young adults. Early detection and intervention is critical for patients with MNGIE as complications, such as MNGIE-related gastrointestinal dysfunction and liver disease, are fatal. Recent studies show potential for improved outcomes. Treatments that have been studied include enzyme replacement, dialysis, liver transplantation, allogeneic hematopoietic stem cell transplantation, and gene therapy.

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