Cellular neurometabolism: a tentative to connect cell biology and metabolism in neurology

Journal of Inherited Metabolic Disease
Àngels García-Cazorla, Jean-Marie Saudubray

Abstract

It has become increasingly evident that inborn errors of metabolism (IEMs) are particularly prevalent as diseases of the nervous system and that a broader, more inclusive definition of IEM is necessary. In fact, as long as biochemistry is involved, any kind of monogenic disease can become an IEM. This new, extended definition includes new categories and mechanisms, and as a general trend will go beyond a single biochemical pathway and/or organelle, and will appear as a connection of multiple crossroads in a system biology approach.From one side, a simplified and updated classification of IEM is presented that mixes elements from the diagnostic approach with pathophysiological considerations into three large categories based on the size of molecules ("small and simple" or "large and complex") and their implication in energy metabolism. But from another side, whatever their size, metabolites involved in IEM may behave in the brain as signalling molecules, structural components and fuels, and many metabolites have more than one role. Neurometabolism is becoming more relevant, not only in relation to these new categories of diseases but also as a necessary way to explain the mechanisms of brain damage in classically defined categor...Continue Reading

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Citations

Mar 1, 2020·Biomolecules·Valeria De PasqualeMarianna Caterino
Nov 30, 2018·Journal of Inherited Metabolic Disease·Àngels García-CazorlaÀlex Bayès
Jul 18, 2018·Journal of Inherited Metabolic Disease·Alba Tristán-Noguero, Àngels García-Cazorla
Jun 8, 2018·Journal of Inherited Metabolic Disease·Jean-Marie Saudubray, Fanny Mochel
Jul 20, 2018·Journal of Inherited Metabolic Disease·Elisenda Cortès-SaladelafontÀngels García-Cazorla
Mar 19, 2019·Journal of Inherited Metabolic Disease·Jean-Marie SaudubrayAngeles Garcia-Cazorla
Jan 11, 2021·Orphanet Journal of Rare Diseases·Michela SemeraroCarlo Dionisi-Vici

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Methods Mentioned

BETA
protein folding
glycosylation

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