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Mitochondrial Dysfunction and Redox Homeostasis Impairment as Pathomechanisms of Brain Damage in Ethylmalonic Encephalopathy: Insights from Animal and Human Studies.
Grings M, Wajner M, Leipnitz G. Grings M, et al. Cell Mol Neurobiol. 2022 Apr;42(3):565-575. doi: 10.1007/s10571-020-00976-2. Epub 2020 Oct 9. Cell Mol Neurobiol. 2022. PMID: 33034777 Review.
Ethylmalonic encephalopathy (EE) is a severe intoxication disorder caused by mutations in the ETHE1 gene that encodes a mitochondrial sulfur dioxygenase involved in the catabolism of hydrogen sulfide. ...Mounting evidence show that hydrogen sulfide and ethylmalon …
Ethylmalonic encephalopathy (EE) is a severe intoxication disorder caused by mutations in the ETHE1 gene that encodes a mitoch …
Identification of a novel homozygous nonsense variant in a Chinese patient with ethylmalonic encephalopathy and a genotype-phenotype spectrum review.
Tao Y, Han D, Li X, Wang L, Yue L, Huang C, Lu D, Li X. Tao Y, et al. Clin Chim Acta. 2020 Oct;509:8-17. doi: 10.1016/j.cca.2020.05.051. Epub 2020 May 30. Clin Chim Acta. 2020. PMID: 32485156 Review.
Ethylmalonic encephalopathy (EE) is a rare and devastating neurodegenerative disease caused by mutations in the ETHE1 gene. It is characterized by early-onset encephalopathy, chronic diarrhea, petechiae, orthostatic acrocyanosis, and high levels of methylsucc …
Ethylmalonic encephalopathy (EE) is a rare and devastating neurodegenerative disease caused by mutations in the ETHE1 gene. It …
Lessons Learned from Inherited Metabolic Disorders of Sulfur-Containing Amino Acids Metabolism.
Kožich V, Stabler S. Kožich V, et al. J Nutr. 2020 Oct 1;150(Suppl 1):2506S-2517S. doi: 10.1093/jn/nxaa134. J Nutr. 2020. PMID: 33000152 Free article. Review.
An excessively high Met concentration in some patients with cystathionine beta-synthase deficiency has been associated with encephalopathy and brain edema, and direct toxicity of Met has been postulated. ...
An excessively high Met concentration in some patients with cystathionine beta-synthase deficiency has been associated with encephalopath …
Altered sulfide (H(2)S) metabolism in ethylmalonic encephalopathy.
Tiranti V, Zeviani M. Tiranti V, et al. Cold Spring Harb Perspect Biol. 2013 Jan 1;5(1):a011437. doi: 10.1101/cshperspect.a011437. Cold Spring Harb Perspect Biol. 2013. PMID: 23284046 Free PMC article. Review.
This review will cover the physiological role and the pathogenic effects of H(2)S, focusing on ethylmalonic encephalopathy, a human mitochondrial disorder caused by genetic abnormalities of sulfide metabolism. ...
This review will cover the physiological role and the pathogenic effects of H(2)S, focusing on ethylmalonic encephalopathy, a …
Clinical Therapeutic Management of Human Mitochondrial Disorders.
Finsterer J. Finsterer J. Pediatr Neurol. 2020 Dec;113:66-74. doi: 10.1016/j.pediatrneurol.2020.07.004. Epub 2020 Jul 6. Pediatr Neurol. 2020. PMID: 33053453 Review.
Specific treatment can be offered for stroke-like episodes, mitochondrial epilepsy, mitochondrial neurogastrointestinal encephalopathy, Leber hereditary optic neuropathy, thiamine-responsive Leigh syndrome, primary coenzyme Q deficiency, primary carnitine deficiency, Fried …
Specific treatment can be offered for stroke-like episodes, mitochondrial epilepsy, mitochondrial neurogastrointestinal encephalopathy …
AAV-vector based gene therapy for mitochondrial disease: progress and future perspectives.
Hanaford AR, Cho YJ, Nakai H. Hanaford AR, et al. Orphanet J Rare Dis. 2022 Jun 6;17(1):217. doi: 10.1186/s13023-022-02324-7. Orphanet J Rare Dis. 2022. PMID: 35668433 Free PMC article. Review.
This review summarizes the preclinical findings of AAV vector-based gene replacement therapy for mitochondrial diseases including Leigh syndrome, Barth syndrome, ethylmalonic encephalopathy, and others....
This review summarizes the preclinical findings of AAV vector-based gene replacement therapy for mitochondrial diseases including Leigh synd …
Gastrointestinal and hepatic manifestations of mitochondrial disorders.
Rahman S. Rahman S. J Inherit Metab Dis. 2013 Jul;36(4):659-73. doi: 10.1007/s10545-013-9614-2. Epub 2013 May 15. J Inherit Metab Dis. 2013. PMID: 23674168 Review.
Mitochondrial encephalopathies with major gastrointestinal involvement include mitochondrial neurogastrointestinal encephalopathy and ethylmalonic encephalopathy, which are each associated with highly specific clinical and metabolic profiles. ...
Mitochondrial encephalopathies with major gastrointestinal involvement include mitochondrial neurogastrointestinal encephalopathy and …
Mitochondrial diseases caused by toxic compound accumulation: from etiopathology to therapeutic approaches.
Di Meo I, Lamperti C, Tiranti V. Di Meo I, et al. EMBO Mol Med. 2015 Oct;7(10):1257-66. doi: 10.15252/emmm.201505040. EMBO Mol Med. 2015. PMID: 26194912 Free PMC article. Review.
Here, we will review two peculiar mitochondrial disorders, ethylmalonic encephalopathy (EE) and mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), caused by mutations in the ETHE1 and TYMP nuclear genes, respectively. ...
Here, we will review two peculiar mitochondrial disorders, ethylmalonic encephalopathy (EE) and mitochondrial neurogastrointes …