Mitochondrial Neurogastrointestinal Encephalopathy - General Discussion

SYMPTOMS & TREATMENTS

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare multisystem disorder characterized by progressive degeneration of the muscles of the gastrointestinal tract causing gastrointestinal dysmotility, weakness of extra-ocular muscles causing drooping of the eyelids (ptosis) and restricted eye movements (ophthalmoparesis), degeneration of peripheral nerves causing altered sensation and weakness the distal arms and legs, and general wasting (cachexia). The specific symptoms associated with MNGIE vary from case to case and may include vomiting, nausea, diarrhea, abdominal pain, and numbness or sensations of pins and needles in the hands and feet. . Additional findings may occur in some cases. MNGIE is caused by changes (mutations) in the ECGF1 gene encoding thymidine phosphorylase (TP) and is inherited as an autosomal recessive trait.

MNGIE patients also show changes (e.g. depletions, deletions, or mutations) in the genetic material (DNA) of the mitochondria. Mitochondria, found by the hundreds within virtually every cell of the body, generate most of the cellular energy through the respiratory chain enzymes (complexes I-V), which convert electrons derived from sugars and fats into ATP, the energy currency of the cell. The genetic blueprints for essential components of the respiratory chain are mitochondrial DNA (mtDNA). Disorders due to mitochondrial dysfunction, often defects of the respiratory chain, are called mitochondrial disease. Because energy is essential for many tissue functions, mitochondrial diseases typically affect multiple organs of the body.

This is an abstract of a report from the National Organization for Rare Disorders, Inc. (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated: 11/12/2008
Copyright 1992, 2000, 2007, 2008National Organization for Rare Disorders, Inc.

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