- 同
- mitochondrial neurogastrointestinal encephalomyopathy
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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/06/14 02:01:14」(JST)
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| Mitochondrial neurogastrointestinal encephalopathy syndrome |
| Classification and external resources |
| ICD-9 |
277.87 |
| OMIM |
603041 |
| DiseasesDB |
32948 |
| GeneReviews |
- Mitochondrial Neurogastrointestinal Encephalopathy Disease
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Mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE), also called myoneurogastrointestinal encephalopathy syndrome or POLIP syndrome,[1] is a rare autosomal recessive[2] mitochondrial disease usually appearing between the second and fifth decades of life. Unlike typical mitochondrial diseases caused by mitochondrial DNA (mtDNA) mutations, MNGIE is caused by mutations in the TYMP gene, which encodes the enzyme thymidine phosphorylase.[1] A secondary form of MNGIE, called MNGIE without leukoencephalopathy, can be caused by mutations in the POLG gene.[1]
Signs and symptoms
MNGIE is a multisystem disorder. Gastrointestinal symptoms may include gastrointestinal dysmotility, possibly resulting in pseudo-obstruction in which the muscular contractions (peristalsis) of the gastrointestinal tract become inefficient, causing malabsorption . Borborygmi (stomach rumbling), early satiety, diarrhea, constipation, gastroparesis, nausea, vomiting, weight loss, diverticulitis. Neurological symptoms may include diffuse leukoencephalopathy, peripheral neuropathy, and myopathy. Ocular symptoms may include retinal degeneration, ophthalmoplegia (paralysis of eye muscles), ptosis (drooping eyelids). Those with MNGIE are often thin, experiencing continuous weight loss.
References
- ^ a b c Online 'Mendelian Inheritance in Man' (OMIM) 603041
- ^ Taanman, J. W.; Daras, M.; Albrecht, J.; Davie, C. A.; Mallam, E. A.; Muddle, J. R.; Weatherall, M.; Warner, T. T.; Schapira, A. H. V.; Ginsberg, L. (Feb 2009). "Characterization of a novel TYMP splice site mutation associated with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)". Neuromuscular Disorders 19 (2): 151–154. doi:10.1016/j.nmd.2008.11.002. PMID 19056268. edit
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Non-Mendelian inheritance: Mitochondrial diseases (277.87)
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| Carbohydrate metabolism |
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| Primarily nervous system |
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| Myopathies |
- Mitochondrial encephalomyopathy
- KSS
- PEO
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| No primary system |
- DAD
- MNGIE
- Pearson syndrome
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| Chromosomal |
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see also mitochondrial proteins
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Index of cells
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| Description |
- Structure
- Organelles
- peroxisome
- cytoskeleton
- centrosome
- epithelia
- cilia
- mitochondria
- Membranes
- Membrane transport
- ion channels
- vesicular transport
- solute carrier
- ABC transporters
- ATPase
- oxidoreduction-driven
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| Disease |
- Structural
- peroxisome
- cytoskeleton
- cilia
- mitochondria
- nucleus
- scleroprotein
- Membrane
- channelopathy
- solute carrier
- ATPase
- ABC transporters
- other
- extracellular ligands
- cell surface receptors
- intracellular signalling
- Vesicular transport
- Pore-forming toxins
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Inborn error of purine-pyrimidine metabolism (E79, 277.2)
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| Purine metabolism |
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Anabolism
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- Adenylosuccinate lyase deficiency
- Adenosine Monophosphate Deaminase Deficiency type 1
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Nucleotide salvage
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- Lesch-Nyhan syndrome/Hyperuricemia
- Adenine phosphoribosyltransferase deficiency
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Catabolism
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- Adenosine deaminase deficiency
- Purine nucleoside phosphorylase deficiency
- Xanthinuria
- Gout
- Mitochondrial neurogastrointestinal encephalopathy syndrome
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| Pyrimidine metabolism |
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Anabolism
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- Orotic aciduria
- Miller syndrome
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Catabolism
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- Dihydropyrimidine dehydrogenase deficiency
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Index of inborn errors of metabolism
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| Description |
- Metabolism
- Enzymes and pathways: citric acid cycle
- pentose phosphate
- glycoproteins
- glycosaminoglycans
- phospholipid
- cholesterol and steroid
- sphingolipids
- eicosanoids
- amino acid
- urea cycle
- nucleotide
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| Disorders |
- Citric acid cycle and electron transport chain
- Glycoprotein
- Proteoglycan
- Fatty-acid
- Phospholipid
- Cholesterol and steroid
- Eicosanoid
- Amino acid
- Purine-pyrimidine
- Heme metabolism
- Symptoms and signs
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| Treatment |
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UpToDate Contents
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English Journal
- CoQ(10) deficiencies and MNGIE: Two treatable mitochondrial disorders.
- Hirano M, Garone C, Quinzii CM.SourceH. Houston Merritt Clinical Research Center, Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA.
- Biochimica et biophysica acta.Biochim Biophys Acta.2012 Jan 18. [Epub ahead of print]
- BACKGROUND: Although causative mutations have been identified for numerous mitochondrial disorders, few disease-modifying treatments are available. Two examples of treatable mitochondrial disorders are coenzyme Q(10) (CoQ(10) or ubiquinone) deficiency and mitochondrial neurogastrointestinal encephal
- PMID 22274133
- Defects in mitochondrial DNA replication and human disease.
- Copeland WC.SourceLaboratory of Molecular Genetics, National Institute of Environmental Health Sciences, Durham, North Carolina 27709, USA. copelan1@niehs.nih.gov
- Critical reviews in biochemistry and molecular biology.Crit Rev Biochem Mol Biol.2012 Jan-Feb;47(1):64-74.
- Mitochondrial DNA (mtDNA) is replicated by the DNA polymerase g in concert with accessory proteins such as the mtDNA helicase, single stranded DNA binding protein, topoisomerase, and initiating factors. Nucleotide precursors for mtDNA replication arise from the mitochondrial salvage pathway originat
- PMID 22176657
- Assessment of thymidine phosphorylase function: measurement of plasma thymidine (and deoxyuridine) and thymidine phosphorylase activity.
- Martí R, López LC, Hirano M.SourceLaboratori de Patologia Mitocondrial, Institut de Recerca Hospital Universitari Vall D'Hebron, Universitat Autonoma de Barcelona, Barcelona, Spain.
- Methods in molecular biology (Clifton, N.J.).Methods Mol Biol.2012;837:121-33.
- We describe detailed methods to measure thymidine (dThd) and deoxyuridine (dUrd) concentrations and thymidine phosphorylase (TP) activity in biological samples. These protocols allow the detection of TP dysfunction in patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). Since
- PMID 22215544
Japanese Journal
- 平木 信明,宇高 毅,塩盛 輝夫,森 貴稔,小泉 弘樹,鈴木 秀明
- Otology Japan 18(4), 423, 2008-09-16
- NAID 10025821859
- Treating MNGIE : is reducing blood nucleosides the first cure for a mitochondrial disorder?
- Abnormal brainstem auditory evoked responses in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) : evidence of delayed central conduction time
Related Links
- 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 ...
- Mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease is characterized by progressive gastrointestinal dysmotility and cachexia manifesting as early satiety, nausea, dysphagia, gastroesophageal reflux, postprandial ...
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