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- W349829441 abstract "Methylmalonic acidaemia is an inherited metabolic disorder caused by a severe deficiency of the activity of the enzyme L-methylmalonyl-CoA mutase or its cofactor 5'-deoxyadenosylcobalamin, resulting in tissue accumulation of large quantities of methylmalonic acid. Among the various clinical features, neurological symptoms are frequently observed. Patients may present cerebral atrophy and basal ganglia abnormalities are common. In the present report, we update the current knowledge on the influence of methylmalonic acid on brain metabolism in the hope of better understanding the neurological dysfunction characteristic of methylmalonic acidaemia. We present evidence showing that the metabolite inhibits brain energy production by various mechanisms and propose that a fall in cellular ATP generation leading to excitotoxicity is crucial for the occurrence of the neurological damage observed in these patients." @default.
- W349829441 created "2016-06-24" @default.
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- W349829441 date "1997-11-01" @default.
- W349829441 modified "2023-10-18" @default.
- W349829441 title "Neurological dysfunction in methylmalonic acidaemia is probably related to the inhibitory effect of methylmalonate on brain energy production" @default.
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- W349829441 doi "https://doi.org/10.1023/a:1005359416197" @default.
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