Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Mitochondrial Neurogastrointestinal Encephalopathy


Synonyms of Mitochondrial Neurogastrointestinal Encephalopathy
  • MEPOP
  • MNGIE
  • MNGIE syndrome
  • muscular dystrophy, oculogastrointestinal
  • myoneurogastrointestinal encephalopathy syndrome
  • POLIP

Disorder Subdivisions



    General Discussion
    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.

    Organizations related to Mitochondrial Neurogastrointestinal Encephalopathy
    • Association of Gastrointestinal Motility Disorders, Inc. (AGMD)
      AGMD International Corporate Headquarters
      Bedford MA 01730
      Phone #: 781-275-1300
      800 #: --
      e-mail: digestive.motility@gmail.com
      Home page: http://www.agmd-gimotility.org
    • Children's European Mitochondrial Disease Network
      Mayfield House
      Northwich Intl CW9 5JB
      Phone #: 44 -0 1-606 43946
      800 #: --
      e-mail: info_cmdn@btopenworld.com
      Home page: http://www.cmdn-mitonet.co.uk
    • International Foundation for Functional Gastrointestinal Disorders
      P.O. Box 170864
      Milwaukee WI 53217
      Phone #: 414-964-1799
      800 #: 888-964-2001
      e-mail: iffgd@iffgd.org
      Home page: http://www.iffgd.org
    • Let Them Hear Foundation
      1900 University Ave #101
      East Palo Alto CA 94303
      Phone #: 650-462-3143
      800 #: 877-735-2929
      e-mail: info@letthemhear.org
      Home page: http://www.letthemhear.org
    • Muscular Dystrophy Association
      3300 E. Sunrise Dr
      Tucson AZ 85718
      Phone #: 520-529-2000
      800 #: 800-344-4863
      e-mail: mda@mdausa.org
      Home page: http://www.mdausa.org
    • Muscular Dystrophy Campaign
      7-11 Prescott Place
      London None SW4 6BS
      Phone #: N/A
      800 #: --
      e-mail: info@muscular-dystrophy.org
      Home page: http://www.muscular-dystrophy.org
    • National Institute of Neurological Disorders and Stroke (NINDS)
      31 Center Drive
      Bethesda MD 20892-2540
      Phone #: 301-496-5751
      800 #: 800-352-9424
      e-mail: braininfo@ninds.nih.gov
      Home page: http://www.ninds.nih.gov/
    • New Horizons Un-Limited, Inc.
      811 East Wisconsin Ave
      Milwaukee WI 53202
      Phone #: 414-299-0124
      800 #: N/A
      e-mail: horizons@new-horizons.org
      Home page: http://www.new-horizons.org
    • Parent Education Network
      203 Brookfield Drive
      Straford WI 54484
      Phone #: 715-687-4551
      800 #: --
      e-mail: N/A
      Home page: N/A
    • Society for Muscular Dystrophy Information International
      P.O. Box 4790
      Nova Scotia None B4V 2X6
      Phone #: 902--68-5-3961
      800 #: --
      e-mail: smdi@auracom.com
      Home page: http://users.auracom.com/smdi
    • United Mitochondrial Disease Foundation
      8085 Saltsburg Road
      Pittsburgh PA 15239
      Phone #: 412-793-8077
      800 #: --
      e-mail: info@umdf.org
      Home page: http://www.umdf.org



    For a Complete Report

    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