ArticleJournal of inherited metabolic disease2012
Morphologic evidence of diffuse vascular damage in human and in the experimental model of ethylmalonic encephalopathy.
Article in Journal of inherited metabolic disease, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 41 citations in OpenAlex.
- Ethylmalonic and Methylsuccinic Acids Disrupt Bioenergetics and Induce Mitochondrial Permeability Transition Through Thiol Redox Modulation in Rat Striatum: Potential Mechanisms Involved in Ethylmalonic Encephalopathy.Neurochemical research · 2026Article
- Intracerebral Administration of Hydrogen Sulfide Impairs Bioenergetics, Redox Status and Mitochondrial Quality Control in Rat Striatum.Neurotoxicity research · 2025Article
- Essential role of sulfide oxidation in brain health and neurological disorders.Pharmacology & therapeutics · 2025Review
- Exclusion of sulfide:quinone oxidoreductase from mitochondria causes Leigh-like disease in mice by impairing sulfide metabolism.The Journal of clinical investigation · 2024Article
- AAV-vector based gene therapy for mitochondrial disease: progress and future perspectives.Orphanet journal of rare diseases · 2022Review
- Mitochondrial Dysfunction and Redox Homeostasis Impairment as Pathomechanisms of Brain Damage in Ethylmalonic Encephalopathy: Insights from Animal and Human Studies.Cellular and molecular neurobiology · 2022Review
- A Case for Hydrogen Sulfide Metabolism as an Oxygen Sensing Mechanism.Antioxidants (Basel, Switzerland) · 2021Review
- Ethylmalonic encephalopathy and liver transplantation: long-term outcome of the first treated patient.Orphanet journal of rare diseases · 2021Article
- Improved clinical outcome following liver transplant in patients with ethylmalonic encephalopathy.American journal of medical genetics. Part A · 2019Article
- Neurological manifestations of organic acidurias.Nature reviews. Neurology · 2019Review
- Successful treatment of a patient with ethylmalonic encephalopathy by intravenous N-acetylcysteine.Metabolic brain disease · 2017Article
- Characteristic Variations and Similarities in Biochemical, Molecular, and Functional Properties of Glyoxalases across Prokaryotes and Eukaryotes.International journal of molecular sciences · 2017Review
- Severe early onset ethylmalonic encephalopathy with West syndrome.Metabolic brain disease · 2015Article
- Mitochondrial diseases caused by toxic compound accumulation: from etiopathology to therapeutic approaches.EMBO molecular medicine · 2015Review
- Crystal structure of human persulfide dioxygenase: structural basis of ethylmalonic encephalopathy.Human molecular genetics · 2015Article
- Hydrogen sulfide as an oxygen sensor.Antioxidants & redox signaling · 2015Review
- Ethylmalonic acid induces permeability transition in isolated brain mitochondria.Neurotoxicity research · 2014Article
- The mitochondrial sulfur dioxygenase ETHYLMALONIC ENCEPHALOPATHY PROTEIN1 is required for amino acid catabolism during carbohydrate starvation and embryo development in Arabidopsis.Plant physiology · 2014Article
- Stress response of OsETHE1 is altered in response to light and dark conditions.Plant signaling & behavior · 2014Article
- The cysteine dioxgenase knockout mouse: altered cysteine metabolism in nonhepatic tissues leads to excess H2S/HS(-) production and evidence of pancreatic and lung toxicity.Antioxidants & redox signaling · 2013Article
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
Abstract
Ethylmalonic encephalopathy (EE) is a rare autosomal recessive disorder characterized by early onset encephalopathy, chronic diarrhoea, petechiae, orthostatic acrocyanosis and defective cytochrome c oxidase (COX) in muscle and brain. High levels of lactic, ethylmalonic and methylsuccinic acids are detected in body fluids. EE is caused by mutations in ETHE1, a mitochondrial sulphur dioxygenase. By studying a suitable mouse model, we found that loss of ETHE1 leads to accumulation of sulphide, which is a poison for COX and other enzymatic activities thus accounting for the main features of EE. We report here the first autopsy case of a child with a genetically confirmed diagnosis of EE, and compare the histological, histochemical and immunohistochemical findings with those of the constitutive Ethe1 (-/-) mice. In addition to COX depleted cells, widespread endothelial lesions of arterioles and capillaries of the brain and gastrointestinal tract were the pathologic hallmarks in both organisms. Our findings of diffuse vascular damage of target critical organs are in keeping with the hypothesis that the pathologic effects of ETHE1 deficiency may stem from high levels of circulating hydrogen sulphide rather than the inability of specific organs to detoxify its endogenous production.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.