Mitochondrial neurogastrointestinal encephalopathy disease
Dernière mise à jour 20 sept. 2023
Respecte les directives éditoriales
- TéléchargerTélécharger
- Partager
- Language
- Discussion
- Version audio
- Ajouter aux sources préférées sur Google
Mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease is a condition that affects several parts of the body, particularly the digestive system and nervous system. The major features of MNGIE disease can appear anytime from infancy to adulthood, but signs and symptoms most often begin by age 20. The medical problems associated with this disorder worsen over time.
Description
Mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease is a condition that affects several parts of the body, particularly the digestive system and nervous system. The major features of MNGIE disease can appear anytime from infancy to adulthood, but signs and symptoms most often begin by age 20. The medical problems associated with this disorder worsen over time.
Almost all people with MNGIE disease have a condition known as gastrointestinal dysmotility, in which the muscles and nerves of the digestive system do not move food through the digestive tract efficiently. The resulting digestive problems include feelings of fullness (satiety) after eating only a small amount, trouble swallowing (dysphagia), nausea and vomiting after eating, episodes of abdominal pain, diarrhea, and intestinal blockage. These gastrointestinal problems lead to extreme weight loss and reduced muscle mass (cachexia).
MNGIE disease is also characterised by abnormalities of the nervous system, although these tend to be milder than the gastrointestinal problems. Affected individuals experience tingling, numbness, and weakness in their limbs (peripheral neuropathy), particularly in the hands and feet. Additional neurological signs and symptoms can include droopy eyelids (ptosis), weakness of the muscles that control eye movement (ophthalmoplegia), and hearing loss. Leukoencephalopathy, which is the deterioration of a type of brain tissue known as white matter, is a hallmark of MNGIE disease. These changes in the brain can be seen with magnetic resonance imaging (MRI), though they usually do not cause symptoms in people with this disorder.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Other names
MEPOP
Mitochondrial myopathy with sensorimotor polyneuropathy, ophthalmoplegia, and pseudo-obstruction
Mitochondrial neurogastrointestinal encephalopathy syndrome
MNGIE disease
MNGIE syndrome
Myoneurogastrointestinal encephalopathy syndrome
Oculogastrointestinal muscular dystrophy
OGIMD
POLIP
Polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction
Thymidine phosphorylase deficiency
Related patient information and medicines
Patient information leaflet
Maladie de Wilson
Maladie de Wilson is a genetic disorder in which copper builds up in the body, mainly in the liver and brain. Without any treatment, the build-up of copper can cause serious symptoms. Treatment is with medication to remove the excess copper and/or to prevent a further build-up of copper. What is Wilson's disease. Wilson's disease is a condition.
Patient information leaflet
Maladie cœliaque
Maladie cœliaque (also spelled celiac disease) mainly affects the part of the gut called the small intestine. It can occur at any age. Coeliac disease is caused by a reaction of the gut to gluten. (For this reason it is sometimes also called gluten-sensitive enteropathy). Various symptoms can develop including tummy (abdominal) pains, tiredness and.
Patient information leaflet
Maladie d'Addison
Maladie d'Addison is a condition in which your adrenal glands are not working as well as they should. In Addison's disease the adrenal glands do not produce as much of the steroid hormones (such as cortisol) as they normally do. These hormones are vital for your body and if you do not have enough of them, you can become very unwell. What is.
Patient information leaflet
Maladie de Huntington
Maladie de Huntington is a genetically inherited condition cela causes parts of the brain and nervous system to stop working properly over time. It is a slowly progressive condition that interferes with the movements of your body, thinking and judgement, and can lead to a change in your behaviour. The symptoms occur because of damage and death of.
Patient information leaflet
Maladie de Buerger
Buerger's disease causes inflammation of blood vessels in the legs and arms, particularly in the hands and feet. It leads to narrowing and blockage of the blood vessels so that blood flow to the hands and feet is reduced. This causes pain ... What is Buerger's disease. Buerger's disease is a condition that causes inflammation of the small- and.
Patient information leaflet
Maladie de Behçet
Maladie de Behçet (also known as Behçet's syndrome) is a rare condition which causes frequent ulcers in your mouth and genital area and can affect different parts of your body. It most commonly affects your eyes and skin. It is more common in people from Mediterranean countries and also those from the Middle East and Eastern Asia. Various.
Lectures complémentaires et références
- Mitochondrial neurogastrointestinal encephalopathy disease; MedlinePlus, National Library of Medicine.
- Hirano M, Marti R, Spinazzola A, Nishino I, Nishigaki Y. Thymidine phosphorylase deficiency causes MNGIE: an autosomal recessive mitochondrial disorder. Nucleosides Nucleotides Nucleic Acids. 2004 Oct;23(8-9):1217-25. doi: 10.1081/NCN-200027485.
- Hirano M, Silvestri G, Blake DM, Lombes A, Minetti C, Bonilla E, Hays AP, Lovelace RE, Butler I, Bertorini TE, et al. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder. Neurology. 1994 Apr;44(4):721-7. doi: 10.1212/wnl.44.4.721.
- Hirano M. Mitochondrial Neurogastrointestinal Encephalopathy Disease. 2005 Apr 22 [updated 2016 Jan 14]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1179/
- Lara MC, Valentino ML, Torres-Torronteras J, Hirano M, Marti R. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): biochemical features and therapeutic approaches. Biosci Rep. 2007 Jun;27(1-3):151-63. doi: 10.1007/s10540-007-9043-2.
- Marti R, Spinazzola A, Nishino I, Andreu AL, Naini A, Tadesse S, Oliver JA, Hirano M. Mitochondrial neurogastrointestinal encephalomyopathy and thymidine metabolism: results and hypotheses. Mitochondrion. 2002 Nov;2(1-2):143-7. doi: 10.1016/s1567-7249(02)00036-3.
- Nishino I, Spinazzola A, Hirano M. MNGIE: from nuclear DNA to mitochondrial DNA. Neuromuscul Disord. 2001 Jan;11(1):7-10. doi: 10.1016/s0960-8966(00)00159-0.
- Nishino I, Spinazzola A, Papadimitriou A, Hammans S, Steiner I, Hahn CD, Connolly AM, Verloes A, Guimaraes J, Maillard I, Hamano H, Donati MA, Semrad CE, Russell JA, Andreu AL, Hadjigeorgiou GM, Vu TH, Tadesse S, Nygaard TG, Nonaka I, Hirano I, Bonilla E, Rowland LP, DiMauro S, Hirano M. Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations. Ann Neurol. 2000 Jun;47(6):792-800.
- Rajakulendran S, Pitceathly RD, Taanman JW, Costello H, Sweeney MG, Woodward CE, Jaunmuktane Z, Holton JL, Jacques TS, Harding BN, Fratter C, Hanna MG, Rahman S. A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease. PLoS One. 2016 Jan 6;11(1):e0145500. doi: 10.1371/journal.pone.0145500. eCollection 2016.
- Teitelbaum JE, Berde CB, Nurko S, Buonomo C, Perez-Atayde AR, Fox VL. Diagnosis and management of MNGIE syndrome in children: case report and review of the literature. J Pediatr Gastroenterol Nutr. 2002 Sep;35(3):377-83. doi: 10.1097/00005176-200209000-00029.
Historique de l'article
Article également disponible en Anglais, Allemand, Espagnol, Français, Italien, Portugais, Hindi, Hébreu, Arabe, and Suédois.
20 sept. 2023 | Dernière version
1er sept 2023 | Publié à l'origine
Participez à la conversation
Partagez vos pensées ou expériences avec les autres dans notre communautés de patients.
Demandez, partagez, connectez-vous.
Parcourez les discussions, posez des questions et partagez vos expériences sur des centaines de sujets de santé.
Inscrivez-vous à la newsletter Patient
Votre dose hebdomadaire de conseils de santé clairs et fiables - rédigés pour vous aider à vous sentir informé, confiant et maître de la situation.
En vous abonnant, vous acceptez notre Politique de confidentialité. Vous pouvez vous désabonner à tout moment. Nous ne vendons jamais vos données.