- 同
- MNGIE
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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/01/29 15:06:09」(JST)
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This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed. (June 2010) |
| 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[edit]
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[edit]
- ^ 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 |
PCD · PDHA
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| Primarily nervous system |
LHON · NARP · Leigh's
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| Myopathies |
Mitochondrial encephalomyopathy (MELAS, MERRF) · KSS · PEO
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| No primary system |
DAD · MNGIE · Pearson syndrome
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| Chromosomal |
TIMM8A (Mohr-Tranebjaerg syndrome) · OPA1 (Kjer's optic neuropathy)
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see also mitochondrial proteins
- B structural
- perx
- skel
- cili
- mito
- nucl
- sclr
- DNA/RNA/protein synthesis
- membrane
- transduction
- trfk
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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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mt, k, c/g/r/p/y/i, f/h/s/l/o/e, a/u, n, m
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k, cgrp/y/i, f/h/s/l/o/e, au, n, m, epon
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m (A16/C10), i (k, c/g/r/p/y/i, f/h/s/o/e, a/u, n, m)
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UpToDate Contents
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English Journal
- Inborn errors of pyrimidine metabolism: clinical update and therapy.
- Balasubramaniam S1, Duley JA, Christodoulou J.
- Journal of inherited metabolic disease.J Inherit Metab Dis.2014 Jul 17. [Epub ahead of print]
- Inborn errors involving enzymes essential for pyrimidine nucleotide metabolism have provided new insights into their fundamental physiological roles as vital constituents of nucleic acids as well as substrates of lipid and carbohydrate metabolism and in oxidative phosphorylation. Genetic aberrations
- PMID 25030255
- Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype in a patient with a novel heterozygous POLG mutation.
- Prasun P1, Koeberl DD.
- Journal of neurology.J Neurol.2014 Jul 15. [Epub ahead of print]
- PMID 25022940
- Diagnosis of mitochondrial neurogastrointestinal encephalomyopathy: Proposal of a clinical algorithm.
- Zimmer V1, Hirano M2, Zimmer A3, Lammert F4.
- Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver.Dig Liver Dis.2014 Jul;46(7):664-5. doi: 10.1016/j.dld.2014.03.006. Epub 2014 Apr 13.
- PMID 24726585
Japanese Journal
- Abnormal brainstem auditory evoked responses in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) : evidence of delayed central conduction time
- Thymidine Phosphorylase Gene Mutation is not a Primary Cause of Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)
- Kumagai Yukie,Sugiura Yoshihiro,Sugeno Hidekazu,Takebayashi Yuji,Takenoshita Seiichi,Yamamoto Teiji
- Internal Medicine 45(7), 443-446, 2006
- … Objective: The authors identified a patient with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), who completely fulfilled the clinical criteria with low thymidine phosphorylase (TP) activity. … Conclusion: TP gene mutation is not a primary cause of MNGIE, but with a mitochondrial deletion mutation, a single nucleotide polymorphism (SNP) of the TP gene may be crucial in the pathogenesis of MNGIE. …
- NAID 130000076807
- Mitochondrial Neurogastrointestinal Encephalomyopathy and Its Pathophysiology
Related Links
- M Hirano, Y Nishigaki, R Martí BACKGROUND: Mitochondrial encephalomyopathies are clinically and genetically heterogeneous because mitochondria are the products of 2 genomes: mitochondrial DNA (mtDNA) and nuclear DNA ...
- 1. Cas Lek Cesk. 2006;145(8):665-70. [Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)]. [Article in Czech] Honzík T, Tesarová M, Hansíková H, Krijt J, Benes P, Zámecník J, Wenchich L, Zeman J. Klinika detského a ...
★リンクテーブル★
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- 同
- mitochondrial neurogastrointestinal encephalomyopathy
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- 関
- mitochondria、mitochondrially、mitochondrion