ArticleMetabolic brain disease2006
Inhibition of the electron transport chain and creatine kinase activity by ethylmalonic acid in human skeletal muscle.
Article in Metabolic brain disease, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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12 citing papers in PubMed, 30 citations in OpenAlex.
- Mitochondrial Unfolded Protein Response (mtUPR) Activation Improves Pathological Alterations in Cellular Models of Ethylmalonic Encephalopathy.Antioxidants (Basel, Switzerland) · 2025Article
- Article
- Variants in the ethylmalonyl-CoA decarboxylase (ECHDC1) gene: a novel player in ethylmalonic aciduria?Journal of inherited metabolic disease · 2021Article
- Short-chain acyl-CoA dehydrogenase deficiency: from gene to cell pathology and possible disease mechanisms.Journal of inherited metabolic disease · 2017Review
- Article
- Ethylmalonic acid induces permeability transition in isolated brain mitochondria.Neurotoxicity research · 2014Article
- Article
- Disruption of mitochondrial homeostasis in organic acidurias: insights from human and animal studies.Journal of bioenergetics and biomembranes · 2011Review
- Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy.Journal of inherited metabolic disease · 2010Article
- Promotion of lipid and protein oxidative damage in rat brain by ethylmalonic acid.Neurochemical research · 2010Article
- Short-chain acyl-coenzyme A dehydrogenase deficiency.Molecular genetics and metabolism · 2008Review
- Profiling of oxidative stress in patients with inborn errors of metabolism.Molecular genetics and metabolismArticle
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Authors and funding
11 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Ethylmalonic aciduria is a common finding in patients affected by short-chain acyl-CoA dehydrogenase (SCAD) deficiency and other diseases characterized by encephalopathy, muscular symptomatology, and lactic acidemia. Considering that the pathophysiological mechanisms of these disorders are practically unknown and that lactic acidosis suggest an impairment of energy production, the objective of the present work was to investigate the in vitro effect of ethylmalonic acid (EMA), at concentrations varying from 0.25 to 5.0 mM, on important parameters of energy metabolism in human skeletal muscle, such as the activities of the respiratory chain complexes and of creatine kinase, which are responsible for most of the ATP produced and transferred inside the cell. We verified that EMA significantly inhibited the activity of complex I-III at concentrations as low as 0.25 mM, complex II-III at 1 mM and higher concentrations, and complex II at the concentration of 5 mM. In contrast, complex IV was not inhibited by the acid. Finally, we observed that the activity of creatine kinase was significantly inhibited by EMA at the concentrations of 1 and 5 mM. These results suggest that EMA compromises energy metabolism in human skeletal muscle. In case the in vitro effects detected in the present study also occur in vivo, it is tempting to speculate that they may contribute, at least in part, to explain the hypotonia/myopathy, as well as the increased concentrations of lactic acid present in the patients affected by illnesses in which EMA accumulates.
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