Mitochondrial neurogastrointestinal encephalopathy syndrome
Mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE) is a rare autosomal recessive mitochondrial disease. [2] It has been previously referred to as polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction (POLIP syndrome). [3] The disease presents in childhood, but often goes unnoticed for decades.
Mitochondrial Neurogastrointestinal Encephalopathy Disease
2005年4月22日 · MNGIE (mitochondrial neurogastrointestinal encephalopathy) disease results from the mutagenic effect of thymidine phosphorylase deficiency on mitochondrial DNA (mtDNA). Thymidine phosphorylase deficiency results from pathogenic variants in the nuclear gene TYMP .
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MNGIE is caused by mutations in the TYMP gene. These mutations result in the insufficient activity of an enzyme called thymidine phosphorylase (TP) in MNGIE patients. 2. Parents can either have MNGIE or be carriers of the genetic mutation. Carriers are people who are healthy, but can still pass on their genetic mutation.
Mitochondrial neurogastrointestinal encephalopathy disease
Mitochondria use nucleosides, including thymidine, to build new molecules of mtDNA. A loss of thymidine phosphorylase activity and the resulting buildup of thymidine disrupt the usual maintenance and repair of mtDNA. As a result, variants can accumulate in mtDNA, causing it to become unstable.
Mitochondrial Neurogastrointestinal Encephalopathy
2012年3月8日 · 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 ...
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE…
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disease caused by mutations in the thymidine phosphorylase gene (TYMP). 1 TYMP encodes for thymidine phosphorylase (TP), which catabolizes thymidine (dThd) and deoxyuridine (dUrd) into their respective bases.
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position ...
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive disease caused by TYMP mutations and thymidine phosphorylase (TP) deficiency. Thymidine and deoxyuridine accumulate impairing the mitochondrial DNA maintenance and integrity.
线粒体神经胃肠型脑肌病的诊治进展 - 中华实用儿科临床杂志
线粒体神经胃肠型脑肌病(mngie)是发现的第1例由核基因突变而致病的线粒体病 ，是一种罕见的常染色体隐性遗传病。mngie发病年龄广泛，从新生儿到50岁均可发病，超过60%的患者在20岁前发病，平均寿命37.6岁 。
Frontiers | Mitochondrial Neurogastrointestinal …
2018年12月20日 · Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an ultra-rare metabolic autosomal recessive disease, caused by mutations in the nuclear gene TYMP which encodes the enzyme thymidine phosphorylase. The resulting enzyme deficiency leads to a systemic accumulation of the deoxyribonucleosides thymidine and deoxyuridine, and ...
Clinical and molecular characterization of a patient with …
2020年5月8日 · Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive disorder caused by mutations in TYMP gene, encoding nuclear thymidine phosphorylase (TP). MNGIE mainly presents with gastrointestinal symptoms and is mostly misdiagnosed in many patients as malabsorption syndrome, …