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- W2322123096 abstract "Organic acidemias constitute a heterogenous group of inherited deficiencies in the catabolic pathways of amino acids. Neurological disease, such as movement disorders, psychomotor retardation and epilepsy, are frequently found owing to neurodegenerative changes, particularly in the basal ganglia. The mechanisms underlying neuropathological changes in inherited disorders of propionate metabolism, i.e. methylmalonic and propionic aciduria, has been the subject of intense debates during the last years. It has been demonstrated that an impairment of energy metabolism in propionic and methylmalonic acidurias is most likely mediated by synergistic inhibition of the tricarboxylic acid cycle, the mitochondrial respiratory chain and mitochondrial transporters by propionyl-CoA and metabolites of alternative propionate oxidation, such as 2-methylcitrate and malonate, thus sharing mechanistic similarities to propionate toxicity in bacteria and fungi. Propionyl-CoA, a putative neurotoxic agent, induces various inhibitory effects on mitochondrial energy metabolism and urea cycle. A recent study has highlighted that propionyl-CoA-induced mitochondrial dysfunction plays a key role in this scenario. In line with these observations, bioenergetic analysis of muscle biopsies of two patients with propionic aciduria has revealed severely compromised mitochondrial energy metabolism, including decreased enzyme activities (respiratory chain complexes I-IV, pyruvate dehydrogenase complex, α-ketoglutarate dehydrogenase complex), a depletion of ATP, phosphocreatine and mitochondrial DNA. In conclusion, synergistic inhibition of mitochondrial energy metabolism by endogenous toxic organic acids in methylmalonic and propionic acidurias induces severe secondary mitochondrial dysfunction resulting in recurrent metabolic crises, multi-organ failure, and reduced life expectancy." @default.
- W2322123096 created "2016-06-24" @default.
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- W2322123096 date "2006-12-01" @default.
- W2322123096 modified "2023-09-25" @default.
- W2322123096 title "Severe secondary mitochondrial dysfunction in classical organic acidemias" @default.
- W2322123096 doi "https://doi.org/10.1055/s-2006-973960" @default.
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