Mitochondrial neurogastrointestinal encephalomyopathy: Manometric and diagnostic features

Mueller, Lisa; Camilleri, Michael; Emslie-Smith, A

doi:10.1016/s0016-5085(99)70080-6

Cited by 53 publications

(26 citation statements)

References 24 publications

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“…When suspicion develops, gastrointestinal manometry, radionuclide studies, and histopathological examination of all intestinal wall layers may help confirm the diagnosis, establish a prognosis, and delineate treatment (1,7). The presence of an unexplained association with neuromuscular, gastrointestinal, and other non-neuromuscular symptoms should prompt suspicion of mitochondrial changes as a reflection of mitochondrial ubiquity (8)(9)(10). Treatment is aimed at symptom improvement and sustained adequate nutrition (1,7,11).…”

Section: Introductionmentioning

confidence: 99%

Chronic primary intestinal pseudo-obstruction from visceral myopathy

Muñoz-Yagüe

Marín

Colina

et al. 2006

Rev. esp. enferm. dig.

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Chronic intestinal pseudo-obstruction is an uncommon syndrome characterized by relapsing episodes suggesting intestinal obstruction during which no mechanical causes are identified to account for symptoms. Etiologic factors may be manifold. Among them a number of neurologic conditions, gastrointestinal smooth muscle myopathies, endocrino-metabolic and autoimmune diseases, and the use of selected drugs stand out. We report a case of chronic intestinal pseudo-obstruction originating in a sporadic, primary intestinal myopathy that corresponds to no type thus far described. A histological study of the intestinal wall showed disrupted muscle bundles and the presence of interstitial edema. Myocytes had severe degenerative changes, and no alterations were seen in submucosal and myenteric plexus neurons. The activity of enzyme complexes in the mitochondrial respiratory chain, and of thymidine phosphorylase was normal. No mitochondrial DNA changes were seen.

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Section: Introductionmentioning

confidence: 99%

Chronic primary intestinal pseudo-obstruction from visceral myopathy

Muñoz-Yagüe

Marín

Colina

et al. 2006

Rev. esp. enferm. dig.

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“…4,5 In 1976, Okamura and associates 6 reported the first case as "congenital oculoskeletal myopathy with abnormal muscle and liver mitochondria." Since then, more than 35 additional individuals with MNGIE have been described, 4,5,[7][8][9][10][11][12][13][14][15][16] with several acronyms: myo-, neuro-, gastrointestinal encephalopathy (MNGIE) 8 ; polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction (POLIP) 9 ; oculogastrointestinal muscular dystrophy (OGIMD) 7 ; and mitochondrial encephalomyopathy with sensorimotor polyneuropathy, ophthalmoplegia, and pseudo-obstruction (MEPOP). 17 We have identified mutations in the gene encoding thymidine phosphorylase (TP), located on chromosome 13.32-qter, as the cause of MNGIE.…”

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confidence: 99%

Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutations

et al. 2000

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Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder defined clinically by severe gastrointestinal dysmotility; cachexia; ptosis, ophthalmoparesis, or both; peripheral neuropathy; leukoencephalopathy; and mitochondrial abnormalities. The disease is caused by mutations in the thymidine phosphorylase (TP) gene. TP protein catalyzes phosphorolysis of thymidine to thymine and deoxyribose 1‐phosphate. We identified 21 probands (35 patients) who fulfilled our clinical criteria for MNGIE. MNGIE has clinically homogeneous features but varies in age at onset and rate of progression. Gastrointestinal dysmotility is the most prominent manifestation, with recurrent diarrhea, borborygmi, and intestinal pseudo‐obstruction. Patients usually die in early adulthood (mean, 37.6 years; range, 26–58 years). Cerebral leukodystrophy is characteristic. Mitochondrial DNA (mtDNA) has depletion, multiple deletions, or both. We have identified 16 TP mutations. Homozygous or compound heterozygous mutations were present in all patients tested. Leukocyte TP activity was reduced drastically in all patients tested, 0.009 ± 0.021 μmol/hr/mg (mean ± SD; n = 16), compared with controls, 0.67 ± 0.21 μmol/hr/mg (n = 19). MNGIE is a recognizable clinical syndrome caused by mutations in thymidine phosphorylase. Severe reduction of TP activity in leukocytes is diagnostic. Altered mitochondrial nucleoside and nucleotide pools may impair mtDNA replication, repair, or both. Ann Neurol 2000;47:792–800

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“…This unusual combination of a diffuse leucoencephalopathy with severe gastrointestinal dysmotility,1 2 cachexia, external ophthalmoplegia and peripheral neuropathy is highly suggestive of the autosomal recessive disorder, mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). This rare disease arises from loss-of-function mutations in the nuclear thymidine phosphorylase (TP) gene, which leads to secondary depletion and deletions in mitochondrial DNA 3.…”

Section: Answersmentioning

confidence: 99%