Succinyl-CoA Synthetase Dysfunction as a Mechanism of Mitochondrial Encephalomyopathy: More than Just an Oxidative Energy Deficit [PDF]
International Journal of Molecular Sciences, 2023 Biallelic pathogenic variants in subunits of succinyl-CoA synthetase (SCS), a tricarboxylic acid (TCA) cycle enzyme, are associated with mitochondrial encephalomyopathy in humans. SCS catalyzes the interconversion of succinyl-CoA to succinate, coupled to
Brett Graham, Makayla S Lancaster
exaly +3 more sources
BioMedica, 2021 Background and Objective: Mitochondrial encephalomyopathies represent a clinically heterogeneous group of disorders resulting from abnormal mitochondrial function.
Hai-ping Xia +5 more
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MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY (MNGIE) [PDF]
Acta Medica Iranica, 2006 Mitochondrial neurogastrointestinal encephalo-myopathy (MNGIE) is a rare autosomal recessive disease caused by thymidine phosphorylase (TP) gene mutation.
P. Ayatollahi, A. Tarazi S. Nafissi
doaj +3 more sources
Clinical Interventions in Aging, 2018 Gao-Li Fang,1 Yang Zheng,2 Yin-Xi Zhang2 1Department of Neurology, Hangzhou Red Cross Hospital, Hangzhou, China; 2Department of Neurology, Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, China Abstract: Few cases of ...
Fang GL, Zheng Y, Zhang YX
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Gastrointestinal complications of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome managed by parenteral nutrition [PDF]
European Journal of Case Reports in Internal MedicineMELAS – an acronym for mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes – is a multiorgan disease caused by a mutation in mitochondrial DNA (mtDNA).
Simona Horná +6 more
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Cochlear Implantation in Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes Syndrome: Case Presentation. [PDF]
J Int Adv Otol, 2022 Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome is a multisystem, progressive neurodegenerative condition, and the most common mitochondrial cytopathy.
Crundwell G, Kullar P, Bance M.
europepmc +2 more sources
Outcomes misaligned in mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS): implications for trial design. [PDF]
Brain Commun\ua9 The Author(s) 2025. Published by Oxford University Press on behalf of the Guarantors of Brain. The m.3243A>G variant in the MT-TL1 gene is the most prevalent pathogenic variant in mitochondrial DNA in adults, associated with a wide clinical ...
Stefanetti RJ +6 more
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Mitochondrial neurogastrointestinal encephalomyopathy
The Turkish Journal of Gastroenterology, 2005 Mitochondrial, neurogastrointestinal encephalomyopathy is an autosomal recessive disease characterized by progressive ophthalmoplegia, peripheral neuropathy, mitochondrial abnormalities and gastrointestinal involvement.
Ezgi COŞKUN +5 more
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Diagnostic challenges in mitochondrial encephalomyopathy with m.10158T>C mutation: a case report and literature review [PDF]
Frontiers in Integrative NeuroscienceLiang Zhigang
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A patient with MELAS syndrome combined with autoimmune abnormalities: a case report
Frontiers in Neurology, 2023 BackgroundMitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) is a group of maternally inherited disorders caused by mutations or deletions in mitochondrial genes with mitochondrial encephalomyopathy, lactic acidosis ...
Mingmin Zhao +11 more
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