Inborn errors of Carbohydrate Metabolism

Released on by Ivan Martinez Duncker
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  • Inborn errors of Carbohydrate Metabolism Book Detail

  • Author : Ivan Martinez Duncker
  • Release Date : 2024-07-03
  • Publisher : Frontiers Media SA
  • Genre : Science
  • Pages : 166
  • ISBN 13 : 2832550975
  • File Size : 86,86 MB
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Inborn errors of Carbohydrate Metabolism by Ivan Martinez Duncker PDF Summary

Book Description: Inborn errors of carbohydrate metabolism are a heterogeneous subgroup of inborn errors that are caused by mutations in human genes coding for proteins involved in carbohydrate catabolic and anabolic pathways. Through the breakdown of sugars, carbohydrate catabolism allows a constant supply of energy (e.g. glycolysis), but also involves the breakdown of the cell’s complex oligosaccharides (e.g. lysosomal degradation of surface glycoconjugates) allowing the recycling of monosaccharides. On the other hand, anabolism of carbohydrates (e.g. gluconeogenesis) is required to supply newly synthesized sugars to catabolic pathways, also allowing interconversion of sugars and sustaining the synthetic pathways of complex carbohydrate structures such as glycosaminoglycans and glycans that are the carbohydrate moiety of glycoconjugates involved in multiple biological functions.

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